Hypoglycemia in Neonates and Infants

Pediatric Endocrinology

Volumn , Issue , 2008, Pages 165-197

  De León, Diva D ^a   Stanley, Charles A ^a,b   Sperling, Mark A ^c,d  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^d CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84882511200     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-141604090-3.50010-7     Document Type: Chapter

References (191)

1. Cryer PE Glucose homeostasis and hypoglycemia 2003, WB Saunders, Philadelphia.
2. Nehlig A Cerebral energy metabolism, glucose transport and blood flow: changes with maturation and adaptation to hypoglycaemia. Diabetes Metab 1997, 23:18.
3. Devaskar SU, Mueckler MM The mammalian glucose transporters. Pediatr Res 1992, 31:1.
4. Scheepers A, Joost HG, Schurmann A The glucose transporter families SGLT and GLUT: molecular basis of normal and aberrant function. JPEN J Parenter Enteral Nutr 2004, 28:364.
5. Kahn BB Facilitative glucose transporters: regulatory mechanisms and dysregulation in diabetes. J Clin Invest 1992, 89:1367.
6. Pardridge WM, Boado RJ, Farrell CR Brain-type glucose transporter (GLUT-1) is selectively localized to the blood-brain barrier. Studies with quantitative western blotting and in situ hybridization. J Biol Chem 1990, 265:18035.
7. Kang L, Routh VH, Kuzhikandathil EV, et al. Physiological and molecular characteristics of rat hypothalamic ventromedial nucleus glucosensing neurons. Diabetes 2004, 53:549.
8. Settergren G, Lindblad BS, Persson B Cerebral blood flow and exchange of oxygen, glucose ketone bodies, lactate, pyruvate and amino acids in anesthetized children. Acta Paediatr Scand 1980, 69:457.
9. De Vivo DC, Trifiletti RR, Jacobson RI, et al. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med 1991, 325:703.
10. Fishman RA The glucose-transporter protein and glucopenic brain injury. N Engl J Med 1991, 325:731.
11. Gerich JE Lilly lecture 1988. Glucose counterregulation and its impact on diabetes mellitus. Diabetes 1988, 37:1608.
12. Cryer PE, Gerich JE Glucose counterregulation, hypoglycemia, and intensive insulin therapy in diabetes mellitus. N EnglJ Med 1985, 313:232.
13. Menon RK, Sperling MA Carbohydrate metabolism. Semin Perinatol 1988, 12:157.
14. Bloch CA, Ozbun MA, Khan SA Glycogen phosphorylase: developmental expression in rat liver. Biol Neonate 1993, 63:113.
15. Brain damage by neonatal hypoglycaemia. Lancet 1989, 1:882.
16. Lucas A, Morley R, Cole TJ Adverse neurodevelopmental outcome of moderate neonatal hypoglycaemia. Bmj 1988, 297:1304.
17. Haymond MW Hypoglycemia in infants and children. Endocrinol Metab Clin North Am 1989, 18:211.
18. Cornblath M, Schwartz R Disorders of Carbohydrate Metabolism in Infancy 1991, Blackwell Scientific, Boston.
19. Sperling MA, DeLamater PV, Phelps D, et al. Spontaneous and amino acid-stimulated glucagon secretion in the immediate postnatal period. Relation to glucose and insulin. J Clin Invest 1974, 53:1159.
20. Bloch CA, Sperling MA Sources and disposition of fetal glucose: studies in the fetal lamb. Am J Perinatol 1988, 5:344.
21. Townsend SF, Rudolph CD, Rudolph AM Cortisol induces perinatal hepatic gluconeogenesis in the lamb. J Dev Physiol 1991, 16:71.
22. Kalhan SC, Savin SM, Adam PA Measurement of glucose turnover in the human newborn with glucose-1-13C. J Clin Endocrinol Metab 1976, 43:704.
23. Fukumoto H, Seino S, Imura H, et al. Characterization and expression of human HepG2/erythrocyte glucose-transporter gene. Diabetes 1988, 37:657.
24. Bier DM, Leake RD, Haymond MW, et al. Measurement of "true" glucose production rates in infancy and childhood with 6,6-dideuteroglucose. Diabetes 1977, 26:1016.
25. Sperling MA, Devaskar SU Insulin action in the fetal-placental unit 1989, Allan R Liss, New York.
26. Hay WW Recent observations on the regulation of fetal metabolism by glucose. J Physiol 2006, 572:17.
27. Sperling MA Integration of fuel homeostasis by insulin and glucagon in the newborn. Monogr Paediatr 1982, 16:39.
28. Sperling MA Carbohydrate metabolism: Insulin and glucagon 1994, WB Saunders, Philadelphia.
29. Hay WW, Meznarich HK The effect of hyperinsulinaemia on glucose utilization and oxidation and on oxygen consumption in the fetal lamb. Q J Exp Physiol 1986, 71:689.
30. Bloch CA, Menon RK, Sperling MA Effects of somatostatin and glucose infusion on glucose kinetics in fetal sheep. Am J Physiol 1988, 255:E87.
31. Devaskar SU, Ganguli S, Styer D, et al. Glucagon and glucose dynamics in sheep: evidence for glucagon resistance in the fetus. Am J Physiol 1984, 246:E256.
32. Sperling MA, Ganguli S Pre- and postnatal development of insulin and glucagon receptors: potential role in energy storage and utilization. J Pediatr Gastroenterol Nutr 2 Suppl 1983, 1:S46.
33. Menon RK, Bloch CA, Sperling MA Estimation of glucose kinetics in fetal-maternal studies: potential errors, solutions, and limitations. Am J Physiol 1990, 258:E1006.
34. Pagliara AS, Kari IE, De Vivo DC, et al. Hypoalaninemia: a concomitant of ketotic hypoglycemia. J Clin Invest 1972, 51:1440.
35. Sperling MA, Ganguli S, Leslie N, Landt K Fetal-perinatal catecholamine secretion: role in perinatal glucose homeostasis. Am J Physiol 1984, 247:E69.
36. Heck LJ, Erenberg A Serum glucose levels in term neonates during the first 48 hours of life. J Pediatr 1987, 110:119.
37. Frazer TE, Karl IE, Hillman LS, Bier DM Direct measurement of gluconeogenesis from [2,3]13C2]alanine in the human neonate. Am J Physiol 1981, 240:E615.
38. Girard J Gluconeogenesis in late fetal and early neonatal life. Biol Neonate 1986, 50:237.
39. Greengard O Enzymic differentiation of human liver: comparison with the rat model. Pediatr Res 1977, 11:669.
40. Bashan N, Gross Y, Moses S, Gutman A Rat liver glycogen metabolism in the perinatal period. Biochim Biophys Acta 1979, 587:145.
41. Marsac C, Saudubray JM, Moncion A, Leroux JP Development of gluconeogenic enzymes in the liver of human newborns. Biol Neonate 1976, 28:317.
42. Granner D, Andreone T, Sasaki K, Beale E Inhibition of transcription of the phosphoenolpyruvate carboxykinase gene by insulin. Nature 1983, 305:549.
43. Cahill GF Starvation in man. N Engl J Med 1970, 282:668.
44. Chaussain JL, Georges P, Olive G, Job JC Glycemic response to 24-hour fast in normal children and children with ketotic hypoglycemia: II. Hormonal and metabolic changes. J Pediatr 1974, 85:776.
45. McGarry JD Lilly Lecture 1978. New perspectives in the regulation of ketogenesis. Diabetes 1979, 28:517.
46. Hirsch HJ, Loo SW, Gabbay KH The development and regulation of the endocrine pancreas. J Pediatr 1977, 91:518.
47. Stanley CA, Baker L Hyperinsulinism in infants and children: diagnosis and therapy. Adv Pediatr 1976, 23:315.
48. Stanley CA, Baker L The causes of neonatal hypoglycemia. N Engl J Med 1999, 340:1200.
49. Cornblath M, Hawdon JM, Williams AF Controversies regarding definition of neonatal hypoglycemia: suggested operational thresholds. Pediatrics 2000, 105:1141.
50. Lubchenco LO, Bard H Incidence of hypoglycemia in newborn infants classified by birth weight and gestational age. Pediatrics 1971, 47:831.
51. Stanley CA, Anday EK, Baker L, Delivoria-Papadopolous M Metabolic fuel and hormone responses to fasting in newborn infants. Pediatrics 1979, 64:613.
52. Hegardt FG Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase: a control enzyme in ketogenesis. Biochem J 1999, 338(Pt 3):569.
53. Pegorier JP, Chatelain F, Thumelin S, Girard J Role of long-chain fatty acids in the postnatal induction of genes coding for liver mitochondrial beta-oxidative enzymes. Biochem Soc Trans 1998, 26:113.
54. Stanley CA, Gonzales E, Baker L Development of hepatic fatty acid oxidation and ketogenesis in the newborn guinea pig. Pediatr Res 1983, 17:224.
55. Lucas A, Bloom SR, Aynsley-Green A Metabolic and endocrine events at the time of the first feed of human milk in preterm and term infants. Arch Dis Child 1978, 53:731.
56. Farquhar JW The child of the diabetic woman. Arch Dis Child 1959, 34:76.
57. Collins JE, Leonard JV Hyperinsulinism in asphyxiated and small-for-dates infants with hypoglycaemia. Lancet 1984, 2:311.
58. Collins JE, Leonard JV, Teale D, et al. Hyperinsulinaemic hypoglycaemia in small for dates babies. Arch Dis Child 1990, 65:1118.
59. Hoe FM, Thornton PS, Wanner LA, et al. Clinical features and insulin regulation in infants with a syndrome of prolonged neonatal hyperinsulinism. J Pediatr 2006, 148:207.
60. Stanley CA Hyperinsulinism in infants and children. Pediatr Clin North Am 1997, 44:363.
61. Glaser B, Thornton P, Otonkoski T, Junien C Genetics of neonatal hyperinsulinism. Arch Dis Child Fetal Neonatal Ed 2000, 82:F79.
62. Huopio H, Reimann F, Ashfield R, et al. Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. J Clin Invest 2000, 106:897.
63. Thornton PS, MacMullen C, Ganguly A, et al. Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor. Diabetes 2003, 52:2403.
64. Magge SN, Shyng SL, MacMullen C, Steinkrauss L, Ganguly A, Katz LE, Stanley CA, et al. Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor. J Clin Endocrinol Metab 2004, 89:4450.
65. Stanley CA, Lieu YK, Hsu BY, et al. Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N Engl J Med 1998, 338:1352.
66. de Lonlay P, Fournet JC, Rahier J, et al. Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy. J Clin Invest 1997, 100:802.
67. Clayton PT, Eaton S, Aynsley-Green A, et al. Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. J Clin Invest 2001, 108:457.
68. Molven A, Matre GE, Duran M, et al. Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation. Diabetes 2004, 53:221.
69. Hussain K, Clayton PT, Krywawych S, et al. Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene. J Pediatr 2005, 146:706.
70. Finegold DN, Stanley CA, Baker L Glycemic response to glucagon during fasting hypoglycemia: an aid in the diagnosis of hyperinsulinism. J Pediatr 1980, 96:257.
71. Stanley CA, Baker L Hyperinsulinism in infancy: diagnosis by demonstration of abnormal response to fasting hypoglycemia. Pediatrics 1976, 57:702.
72. Levitt Katz LE, Satin-Smith MS, Collett-Solberg P, et al. Insulin-like growth factor binding protein-1 levels in the diagnosis of hypoglycemia caused by hyperinsulinism. J Pediatr 1997, 131:193.
73. Grimberg A, Ferry RJ, Kelly A, et al. Dysregulation of insulin secretion in children with congenital hyperinsulinism due to sulfonylurea receptor mutations. Diabetes 2001, 50:322.
74. Ferry RJ, Kelly A, Grimberg A, et al. Calcium-stimulated insulin secretion in diffuse and focal forms of congenital hyperinsulinism. J Pediatr 2000, 137:239.
75. Kelly A, Ng D, Ferry RJ, et al. Acute insulin responses to leucine in children with the hyperinsulinism/hyperammonemia syndrome. J Clin Endocrinol Metab 2001, 86:3724.
76. Thornton PS, Alter CA, Katz LE, et al. Short- and long-term use of octreotide in the treatment of congenital hyperinsulinism. J Pediatr 1993, 123:637.
77. Muller D, Zimmering M, Roehr CC Should nifedipine be used to counter low blood sugar levels in children with persistent hyperinsulinaemic hypoglycaemia?. Arch Dis Child 2004, 89:83.
78. Shilyansky J, Fisher S, Cutz E, et al. Is 95% pancreatectomy the procedure of choice for treatment of persistent hyperinsulinemic hypoglycemia of the neonate?. J Pediatr Surg 1997, 32:342.
79. Suchi M, MacMullen C, Thornton PS, et al. Histopathology of congenital hyperinsulinism: retrospective study with genotype correlations. Pediatr Dev Pathol 2003, 6:322.
80. Rahier J, Guiot Y, Sempoux C Persistent hyperinsulinaemic hypoglycaemia of infancy: a heterogeneous syndrome unrelated to nesidioblastosis. Arch Dis Child Fetal Neonatal Ed 2000, 82:F108.
81. de Lonlay-Debeney P, Poggi-Travert F, Fournet JC, et al. Clinical features of 52 neonates with hyperinsulinism. N Engl J Med 1999, 340:1169.
82. Sempoux C, Guiot Y, Dahan K, et al. The focal form of persistent hyperinsulinemic hypoglycemia of infancy: morphological and molecular studies show structural and functional differences with insulinoma. Diabetes 2003, 52:784.
83. Dubois J, Brunelle F, Touati G, et al. Hyperinsulinism in children: diagnostic value of pancreatic venous sampling correlated with clinical, pathological and surgical outcome in 25 cases. Pediatr Radiol 1995, 25:512.
84. Stanley CA, Thornton PS, Ganguly A, et al. Preoperative evaluation of infants with focal or diffuse congenital hyperinsulinism by intravenous acute insulin response tests and selective pancreatic arterial calcium stimulation. J Clin Endocrinol Metab 2004, 89:288.
85. Ribeiro MJ, De Lonlay P, Delzescaux T, et al. Characterization of hyperinsulinism in infancy assessed with PET and 18F-fluoro-L-DOPA. J Nucl Med 2005, 46:560.
86. Otonkoski T, Nanto-Salonen K, Seppanen M, et al. Noninvasive diagnosis of focal hyperinsulinism of infancy with [18F]-DOPA positron emission tomography. Diabetes 2006, 55:13.
87. Hardy O, Hernandez-Pampaloni M, Saffer JR, et al. Diagnosis and localization of focal congenital hyperinsulinism by 18F-fluorodopa PET scan. J Pediatr 2007, 150:140.
88. Ericson LE, Hakanson R, Lundquist I Accumulation of dopamine in mouse pancreatic B-cells following injection of L-DOPA. Localization to secretory granules and inhibition of insulin secretion. Diabetologia 1997, 13:117.
89. Borelli MI, Villar MJ, Orezzoli A, Gagliardino JJ Presence of DOPA decarboxylase and its localization in adult rat pancreatic islet cells. Diabetes Metab 1997, 23:161.
90. Lin YW, MacMullen C, Ganguly A, et al. A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels. J Biol Chem 2006, 281:3006.
91. Miki Y, Taki T, Ohura T, et al. Novel missense mutations in the glutamate dehydrogenase gene in the congenital hyperinsulinism-hyperammonemia syndrome. J Pediatr 2000, 136:69.
92. MacMullen C, Fang J, Hsu BY, et al. Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase. J Clin Endocrinol Metab 2001, 86:1782.
93. Huijmans JG, Duran M, de Klerk JB, et al. Functional hyperactivity of hepatic glutamate dehydrogenase as a cause of the hyperinsulinism/hyperammonemia syndrome: effect of treatment. Pediatrics 2000, 106:596.
94. Yorifuji T, Muroi J, Uematsu A, et al. Hyperinsulinism-hyperammonemia syndrome caused by mutant glutamate dehydrogenase accompanied by novel enzyme kinetics. Hum Genet 1999, 104:476.
95. Li C, Matter A, Kelly A, et al. Effects of a GTP-insensitive mutation of glutamate dehydrogenase on insulin secretion in transgenic mice. J Biol Chem 2006, 281:15064.
96. Hsu BY, Kelly A, Thornton PS, et al. Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome. J Pediatr 2001, 138:383.
97. Raizen DM, Brooks-Kayal A, Steinkrauss L, et al. Central nervous system hyperexcitability associated with glutamate dehydrogenase gain of function mutations. J Pediatr 2005, 146:388.
98. Zammarchi E, Filippi L, Novembre E, Donati MA Biochemical evaluation of a patient with a familial form of leucine-sensitive hypoglycemia and concomitant hyperammonemia. Metabolism 1996, 45:957.
99. Matschinsky FM Regulation of pancreatic beta-cell glucokinase: from basics to therapeutics. Diabetes 51 Suppl 2002, 3:S394.
100. de Lonlay P, Giurgea I, Sempoux C, et al. Dominantly inherited hyperinsulinaemic hypoglycaemia. J Inherit Metab Dis 2005, 28:267.
101. Glaser B, Kesavan P, Heyman M, et al. Familial hyperinsulinism caused by an activating glucokinase mutation. N Engl J Med 1998, 338:226.
102. Christesen HB, Jacobsen BB, Odili S, et al. The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy. Diabetes 2002, 51:1240.
103. Gloyn AL, Noordam K, Willemsen MA, et al. Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations. Diabetes 2003, 52:2433.
104. Cuesta-Munoz AL, Huopio H, Otonkoski T, et al. Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation. Diabetes 2004, 53:2164.
105. DeBaun MR, King AA, White N Hypoglycemia in Beckwith-Wiedemann syndrome. Semin Perinatol 2000, 24:164.
106. Hussain K, Cosgrove KE, Shepherd RM, et al. Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann syndrome due to defects in the function of pancreatic beta-cell adenosine triphosphate-sensitive potassium channels. J Clin Endocrinol Metab 2005, 90:4376.
107. Bohles H, Sewell AA, Gebhardt B, et al. Hyperinsulinaemic hypoglycaemia-leading symptom in a patient with congenital disorder of glycosylation Ia (phosphomannomutase deficiency). J Inherit Metab Dis 2001, 24:858.
108. de Lonlay P, Cuer M, Vuillaumier-Barrot S, et al. Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose. J Pediatr 1999, 135:379.
109. Babovic-Vuksanovic D, Patterson MC, et al. Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome. J Pediatr 1999, 135:775.
110. Marquardt T, Denecke J Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies. Eur J Pediatr 2003, 162:359.
111. Salisbury DM, Leonard JV, Dezateux CA, Savage MO Micropenis: an important early sign of congenital hypopituitarism. Br Med J (Clin Res Ed) 1984, 288:621.
112. Lovinger RD, Kaplan SL, Grumbach MM Congenital hypopituitarism associated with neonatal hypoglycemia and microphallus: four cases secondary to hypothalamic hormone deficiencies. J Pediatr 1975, 87:1171.
113. Kaufman FR, Costin G, Thomas DW, et al. Neonatal cholestasis and hypopituitarism. Arch Dis Child 1984, 59:787.
114. Renier WO, Nabben FA, Hustinx TW, et al. Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs. Clin Genet 1983, 24:243.
115. Toyofuku T, Takashima S, Takeshita K, Nagafuji H Progressive muscular dystrophy with congenital adrenal hypoplasia: an unusual autopsy case. Brain Dev 1986, 8:285.
116. Clark AJ, Weber A Molecular insights into inherited ACTH resistance syndromes. Trends Endocr Metab 1994, 5:209.
117. Vidnes J, Oyasaeter S Glucagon deficiency causing severe neonatal hypoglycemia in a patient with normal insulin secretion. Pediatr Res 1977, 11:943.
118. Kollee LA, Monnens LA, Cecjka V, Wilms RM, et al. Persistent neonatal hypoglycaemia due to glucagon deficiency. Arch Dis Child 1978, 53:422.
119. Chen YT, Burchell A Glycogen storage diseases 1995, McGraw-Hill, New York.
120. Greenberg CC, Jurczak MJ, Danos AM, Brady MJ Glycogen branches out: new perspectives on the role of glycogen metabolism in the integration of metabolic pathways. Am J Physiol Endocrinol Metab 2006, 291:E1.
121. Lei KJ, Pan CJ, Shelly LL, et al. Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a. J Clin Invest 1994, 93:1994.
122. Foster JD, Nordlie RC The biochemistry and molecular biology of the glucose-6-phosphatase system. Exp Biol Med (Maywood) 2002, 227:601.
123. Gerin I, Veiga-da-Cunha M, Achouri Y, et al. Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib. FEBS Lett 1997, 419:235.
124. Lei KJ, Shelly LL, Pan CJ, et al. Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a. Science 1993, 262:580.
125. Roe TF, Coates TD, Thomas DW, et al. Brief report: treatment of chronic inflammatory bowel disease in glycogen storage disease type Ib with colony-stimulating factors. N Engl J Med 1992, 326:1666.
126. Nordlie RC, Sukalski KA, Munoz JM, Baldwin JJ Type Ic, a novel glycogenosis. Underlying mechanism. J Biol Chem 1983, 258:9739.
127. Melis D, Parenti G, Gatti R, et al. Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study. Clin Endocrinol (Oxf) 2005, 63:19.
128. Chen YT, Coleman RA, Scheinman JI, et al. Renal disease in type I glycogen storage disease. N Engl J Med 1988, 318:7.
129. Chen YT, Scheinman JI, Park HK, et al. Amelioration of proximal renal tubular dysfunction in type I glycogen storage disease with dietary therapy. N Engl J Med 1990, 323:590.
130. Rake JP, Visser G, Labrune P, et al. Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I). Eur J Pediatr 2002, 161(Suppl 1):S20.
131. Moses SW Historical highlights and unsolved problems in glycogen storage disease type 1. Eur J Pediatr 2002, 161(Suppl 1):S2.
132. Bianchi L Glycogen storage disease I and hepatocellular tumours. Eur J Pediatr 1996, 152(Suppl 1):S63.
133. Howell RR, Stevenson RE, Ben-Menachem Y, et al. Hepatic adenomata with type 1 glycogen storage disease. Jama 1976, 236:1481.
134. Limmer J, Fleig WE, Leupold D, et al. Hepatocellular carcinoma in type I glycogen storage disease. Hepatology 1988, 8:531.
135. Greene HL, Slonim AE, O'Neill JA, Burr IM Continuous nocturnal intragastric feeding for management of type 1 glycogen-storage disease. N Engl J Med 1976, 294:423.
136. Chen YT, Cornblath M, Sidbury JB Cornstarch therapy in type I glycogen-storage disease. N Engl J Med 1984, 310:171.
137. Wolfsdorf JI, Keller RJ, Landy H, Crigler JF Glucose therapy for glycogenosis type 1 in infants: comparison of intermittent uncooked cornstarch and continuous overnight glucose feedings. J Pediatr 1990, 117:384.
138. Stanley CA, Mills JL, Baker L Intragastric feeding in type I glycogen storage disease: factors affecting the control of lactic acidemia. Pediatr Res 1981, 15:1504.
139. Yang-Feng TL, Zheng K, Yu J, et al. Assignment of the human glycogen debrancher gene to chromosome 1p21. Genomics 1992, 13:931.
140. Van Hoof F Amylo-1,6-glucosidase activity and glycogen content of the erythrocytes of normal subjects, patients with glycogen storage disease and heterozygotes. Eur J Biochem 1967, 2:271.
141. Fernandes J, Leonard JV, Moses SW, et al. Glycogen storage disease: recommendations for treatment. Eur J Pediatr 1988, 147:226.
142. Goldberg T, Slonim AE Nutrition therapy for hepatic glycogen storage diseases. J Am Diet Assoc 1993, 93:1423.
143. Orho M, Bosshard NU, Buist NR, Gitzelmann R, et al. Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. J Clin Invest 1998, 102:507.
144. Weinstein DA, Correia CE, Saunders AC, Wolfsdorf JI Hepatic glycogen synthase deficiency: an infrequently recognized cause of ketotic hypoglycemia. Mol Genet Metab 2006, 87:284.
145. Pithukpakorn M Disorders of pyruvate metabolism and the tricarboxylic acid cycle. Mol Genet Metab 2005, 85:243.
146. Garcia-Cazorla A, Rabier D, Touati G, et al. Pyruvate carboxylase deficiency: metabolic characteristics and new neurological aspects. Ann Neurol 2006, 59:121.
147. Maesaka H, Komiya K, Misugi K, Tada K Hyperalaninemia hyperpyruvicemia and lactic acidosis due to pyruvate carboxylase deficiency of the liver; treatment with thiamine and lipoic acid. Eur J Pediatr 1976, 122:159.
148. Ahmad A, Kahler SG, Kishnani PS, Artigas-Lopez M, Pappu AS, Steiner R, Millington DS, Van Hove JL, et al. Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate. Am J Med Genet 1999, 87:331.
149. Holton JB, Gillett MG, MacFaul R, Young R Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency. Arch Dis Child 1981, 56:885.
150. Leslie ND Insights into the pathogenesis of galactosemia. Annu Rev Nutr 2003, 23:59.
151. Holton JB, Leonard JV Clouds still gathering over galactosaemia. Lancet 1994, 344:1242.
152. Wong D Hereditary fructose intolerance. Mol Genet Metab 2005, 85:165.
153. Gitzelmann G, Steinmann B, Van den Berghe G Disorders of fructose metabolism 1995, McGraw-Hill, New York.
154. Steinmann B, Gitzelmann R The diagnosis of hereditary fructose intolerance. Helv Paediatr Acta 1981, 36:297.
155. Vockley J, Singh RH, Whiteman DA Diagnosis and management of defects of mitochondrial beta-oxidation. Curr Opin Clin Nutr Metab Care 2002, 5:601.
156. Hale DE, Bennett MJ Fatty acid oxidation disorders: a new class of metabolic diseases. J Pediatr 1992, 121:1.
157. Stanley CA Dissecting the spectrum of fatty acid oxidation disorders. J Pediatr 1998, 132:384.
158. Andresen BS, Bross P, Vianey-Saban C, et al. Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene. Hum Mol Genet 1996, 5:461.
159. Stanley CA, DeLeeuw S, Coates PM, et al. Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake. Ann Neurol 1991, 30:709.
160. DiMauro S, DiMauro PM Muscle carnitine palmityltransferase deficiency and myoglobinuria. Science 1973, 182:929.
161. Frerman FE, Goodman SI Nuclear-encoded defects of the mitochondrial respiratory chain, including glutaric acidemia type II 1995, McGraw-Hill, New York.
162. Treem WR, Rinaldo P, Hale DE, Stanley CA, Millington DS, Hyams JS, Jackson S, Turnbull DM Acute fatty liver of pregnancy and long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. Hepatology 1994, 19:339-345.
163. Roe CR, Ding JH Mitochondrial fatty acid oxidation disorders 2001, 200. McGraw-Hill, New York.
164. Ziadeh R, Hoffman EP, Finegold DN, et al. Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies. Pediatr Res 1995, 37:675.
165. Sudden infant death and inherited disorders of fat oxidation. Lancet 1986, 2:1073.
166. Ding JH, Roe CR, Iafolla AK, Chen YT Medium-chain acyl-coenzyme A dehydrogenase deficiency and sudden infant death. N Engl J Med 1991, 325:61.
167. Aoyama T, Souri M, Ushikubo S, et al. Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients. J Clin Invest 1995, 95:2465.
168. Yamaguchi S, Indo Y, Coates PM, et al. Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency. Pediatr Res 1993, 34:111.
169. Longo N, Amat di San Filippo C, Pasquali M: Disorders of carnitine transport and the carnitine cycle. Am J Med Genet C Semin Med Genet 142:77.
170. Hsu BY, Iacobazzi V, Wang Z, et al. Aberrant mRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency. Mol Genet Metab 2001, 74:248-255. 2001.
171. Hug G, Bove KE, Soukup S Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II. N Engl J Med 1991, 325:1862.
172. Treem WR, Stanley CA, Finegold DN, et al. Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts. N Engl J Med 1988, 319:1331.
173. Tein I, De Vivo DC, Bierman F, et al. Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy. Pediatr Res 1990, 28:247.
174. Rinaldo P, Matern D, Bennett MJ Fatty acid oxidation disorders. Annu Rev Physiol 2002, 64:477.
175. Gregersen N Riboflavin-responsive defects of beta-oxidation. J Inherit Metab Dis 8 Suppl 1985, 1:65.
176. Iafolla AK, Thompson RJ, Roe CR Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children. J Pediatr 1994, 124:409.
177. Stanley CA, Hale DE Genetic disorders of mitochondrial fatty acid oxidation. Curr Opin Pediatr 1994, 6:476.
178. Kelley RI The role of carnitine supplementation in valproic acid therapy. Pediatrics 1994, 93:891.
179. Bressler R Editorial: The unripe akee-forbidden fruit. N Engl J Med 1976, 295:500.
180. Georgiou M, Sianidou L, Hatzis T, Papadatos J, Koutselinis A, et al. Hepatotoxicity due to Atractylis gummifera-L. J Toxicol Clin Toxicol 1988, 26:487.
181. Chappell JB, Crofts AR The effect of atractylate and oligomycin on the behaviour of mitochondria towards adenine nucleotides. biochem J 1965, 95:707.
182. Gordon N, Newton RW Glucose transporter type1 (GLUT-1) deficiency. Brain Dev 2003, 25:477.
183. Wang D, Pascual JM, Yang H, et al. Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects. Ann Neurol 2005, 57:111.
184. Klepper J, Voit T Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: impaired glucose transport into brain-a review. Eur J Pediatr 2002, 161:295.
185. Santer R, Schneppenheim R, Dombrowski A, et al. Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome. Nat Genet 1997, 17:324.
186. Santer R, Steinmann B, Schaub J Fanconi-Bickel syndrome-a congenital defect of facilitative glucose transport. Curr Mol Med 2002, 2:213.
187. Yeung CY Hypoglycemia in neonatal sepsis. J Pediatr 1970, 77:812.
188. Wharton B Hypoglycaemia in children with kwashiorkor. Lancet 1970, 1:171.
189. Black VD, Lubchenco LO, Koops BL, et al. Neonatal hyperviscosity: randomized study of effect of partial plasma exchange transfusion on long-term outcome. Pediatrics 1985, 75:1048.
190. McQuarrie I Idiopathic spontaneously occurring hypoglycemia in infants; clinical significance of problem and treatment. Am J Dis Child 1954, 87:399.
191. Cornblath M, Odell GB, Levin EY Symptomatic neonatal hypoglycemia associated with toxemia of pregnancy. J Pediatr 1959, 55:545.