Growth retardation, general hypotonia, and loss of acquired neuromotor skills in the infants of mothers with cobalamin deficiency and the possible role of succinyl-CoA and glycine in the pathogenesis

Medicine (United States)

Volumn 94, Issue 9, 2015, Pages e584-

  Bicakci, Zafer ^a  

^a KAFKAS UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

COBALAMIN; GLYCINE; SUCCINYL COENZYME A; 5 METHYLTETRAHYDROFOLATE HOMOCYSTEINE METHYLTRANSFERASE; ACYL COENZYME A; CYANOCOBALAMIN; SUCCINYL-COENZYME A;

ANEMIA; ARTICLE; CLINICAL ARTICLE; CYANOCOBALAMIN DEFICIENCY; FEMALE; GROWTH RETARDATION; HEME SYNTHESIS; HUMAN; INFANT; MALE; MEAN CORPUSCULAR VOLUME; MOTOR NEURON DISEASE; MUSCLE HYPOTONIA; MUSCLE TONE; PATHOGENESIS; PRIORITY JOURNAL; RETROSPECTIVE STUDY; THROMBOCYTOPENIA; BLOOD; COMPLICATION; DEFICIENCY; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; GLUCONEOGENESIS; GROWTH DISORDERS; HEMATOPOIESIS; METABOLISM; MOTHER; MOTOR PERFORMANCE; NEUROLOGIC DISEASE; PHYSIOLOGY; PREGNANCY; PREGNANCY COMPLICATION;

5-METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE; ACYL COENZYME A; AMINO ACID METABOLISM, INBORN ERRORS; ANEMIA; FEMALE; GLUCONEOGENESIS; GLYCINE; GROWTH DISORDERS; HEMATOPOIESIS; HUMANS; INFANT; MALE; MOTHERS; MOTOR SKILLS; MUSCLE HYPOTONIA; NERVOUS SYSTEM DISEASES; PREGNANCY; PREGNANCY COMPLICATIONS; VITAMIN B 12; VITAMIN B 12 DEFICIENCY;

EID: 84926315972     PISSN: 00257974     EISSN: 15365964     Source Type: Journal    
DOI: 10.1097/MD.0000000000000584     Document Type: Article

References (52)

1. Stabler SP, Allen RH. Vitamin B12 deficiency as a worldwide problem. Annu Rev Nutr. 2004;24:299-326
2. Emery ES, Homans AC, Colletti RB. Vitamin B12 deficiency: A cause of abnormal movements in infants. Pediatrics. 1997;99: 255-256
3. Higginbottom MC, Sweetman L, Nyhan WL. A syndrome of methylmalonic aciduria, homocystinuria, megaloblastic anemia and neurologic abnormalities in a vitamin B12-deficient breast-fed infant of a strict vegetarian. N Engl J Med. 1978;299:317-323
4. Kühne T, Bubl R, Baumgartner R. Maternal vegan diet causing a serious infantile neurological disorder due to vitamin B12 deficiency. Eur J Pediatr. 1991;150:205-208
5. Chace DH, DiPerna JC, Kalas TA, et al. Rapid diagnosis of methylmalonic and propionic acidemias: quantitative tandem mass spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns. Clin Chem. 2001;47:2040-2044
6. Matsuda I, Terashima T, Yamamoto J, et al. Methylmalonic acidemia. Eur J Pediatr. 1978;128:181-186
7. Packman S, Mahoney MJ, Tanaka K, et al. Severe hyperammonemia in a newborn infant with methylmalonyl-CoA mutase deficiency. J Pediatr. 1978;92:769-771
8. Cathelineau L, Briand P, Ogier H, et al. Occurrence of hyperammonemia in the course of 17 cases of methylmalonic acidemia. J Pediatr. 1981;99:279-280
9. Bonkovsky HL, Guo JT, Hou W, et al. Porphyrin and heme metabolism and the porphyrias. Compr Physiol. 2013;3:365-401
10. Robertson JS, Hsia YE, Scully KJ. Defective leukocyte metabolism in human cobalamin deficiency: impaired propionate oxidation and serine biosynthesis reversible by cyanocobalamin therapy. J Lab Clin Med. 1976;87:89-97
11. Morrow G 3rd, Mahoney MJ, Mathews C, et al. Studies of methylmalonyl coenzyme A carbonylmutase activity in methylmalonic acidemia. I. Correlation of clinical, hepatic, and fibroblast data. Pediatr Res. 1975;9:641-644
12. Depeint F, Bruce WR, Shangari N, et al. Mitochondrial function and toxicity: role of B vitamins on the one-carbon transfer pathways. Chem Biol Interact. 2006;163:113-132
13. Toyoshima S, Watanabe F, Saido H, et al. Accumulation of methylmalonic acid caused by vitamin B12-deficiency disrupts normal cellular metabolism in rat liver. Br J Nutr. 1996;75:929-938
14. Mathey C, Di Marco JN, Poujol A, et al. Failure to thrive and psychomotor regression revealing vitamin B12 deficiency in 3 infants. Arch Pediatr. 2007;14:467-471
15. Zengin E, Sarper N, Caki Kiliç S. Clinical manifestations of infants with nutritional vitamin B deficiency due to maternal dietary deficiency. Acta Paediatr. 2009;98:98-102
16. Demir N, Koc A, Ustyol L, et al. Clinical and neurological findings of severe vitamin B12 deficiency in infancy and importance of early diagnosis and treatment. J Paediatr Child Health. 2013;49:820-824
17. Andrews NC, Ullrich CK, Fleming MD. Disorders of iron metabolism and sideroblastic anemia. In: Orkin SH, Nathan DG, Ginsburg D, Look AT, Fisher DE, Lux SE, eds. Nathan and Oski's Hematology of Infancy and Childhood. 7th ed. Philadelphia: Saunders Elsevier; 2009:521-571
18. McPhee AJ, Davidson GP, Leahy M, et al. Vitamin B12 deficiency in a breast fed infant. Arch Dis Child. 1988;63:921-923
19. Bjørke Monsen AL, Ueland PM, Vollset SE, et al. Determinants of cobalamin status in newborns. Pediatrics. 2001;108:624-630
20. Graham SM, Arvela OM, Wise GA. Long-term neurologic consequences of nutritional vitamin B12 deficiency in infants. J Pediatr. 1992;121:710-714
21. Watkins D, Whitehead VM, Rosenblatt DS. Megaloblastic anemia. In: Orkin SH, Nathan DG, Ginsburg D, Look AT, Fisher DE, Lux SE, eds. Nathan and Oski's Hematology of Infancy and Childhood. 7th ed. Philadelphia: Saunders Elsevier; 2009:467-520
22. Brugnara C. Reference values in infancy and childhood. In: Orkin SH, Nathan DG, Ginsburg D, Look AT, Fisher DE, Lux SE, eds. Nathan and Oski's Hematology of Infancy and Childhood. 7th ed. Philadelphia: Saunders Elsevier; 2009:1769-1796
23. Patiroglu T, Unal E, Yildirim S. Infantile tremor syndrome associated with cobalamin therapy: A case report. Clin Neurol Neurosurg. 2013;115:1903-1905
24. Bender DA. The citric acid cycle: The catabolism of acetyl-CoA. In: Murray RK, Bender DA, Botham KM, Kennelly PJ, Rodwell VW, Weil PA, eds. Harper's Illustrated Biochemistry. 28th ed. China: McGraw-Hill; 2009:143-156
25. Bender DA. Gluconeogenesis and the control of blood glucose. In: Murray RK, Bender DA, Botham KM, Kennelly PJ, Rodwell VW, Weil PA, eds. Harper's Illustrated Biochemistry. 28th ed. China: McGraw-Hill; 2009:165-173
26. Whitehead VM. Acquired and inherited disorders of cobalamin and folate in children. Br J Haematol. 2006;134:125-136
27. Wilson A, Leclerc D, Saberi F, et al. Functionally null mutations in patients with the cblG-variant form of methionine synthase deficiency. Am J Hum Genet. 1998;63:409-414
28. Ledley FD, Rosenblatt DS. Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations. Hum Mutat. 1997;9: 1-6
29. Manoli I, Venditti CP. Methylmalonic acidemia. GeneReviews at Gene-Tests: Medical Genetics Information Resource [database online]. 16 August 2005 (updated 28 September 2010). Seattle, WA: University of Washington; 2010
30. Mac Gillivray MH. Disorders of growth and development. In: Felig P, Frohman LA, eds. Endocrinology and Metabolism. 4th ed. New York: McGraw-Hill; 2002:1265-1314
31. Schneede J, Dagnelie PC, van Staveren WA, et al. Methylmalonic acid and homocysteine in plasma as indicators of functional cobalamin deficiency in infants on macrobiotic diets. Pediatr Res. 1994;36:194-201
32. Dagnelie PC, van Staveren WA, Vergote FJ, et al. Nutritional status of infants aged 4 to 18 months on macrobiotic diets and matched omnivorous control infants: A population-based mixed-longitudinal study. II. Growth and psychomotor development. Eur J Clin Nutr. 1989;43:325-338
33. Nyhan WL, Fawcett N, Ando T, et al. Response to dietary therapy in B12 unresponsive methylmalonic acidemia. Pediatrics. 1973;51:539-548
34. Nelson DL, Cox MM. Amino acid oxidation and the production of urea (pathways of amino acid degradation). In: Nelson DL, Cox MM, eds. Lehninger Principles of Biochemistry. 8th ed. New York: W.H. Freeman and company; 2013:710-726
35. Stover PJ. Physiology of folate and vitamin B12 in health and disease. Nutr Rev. 2004;62:S3-S12
36. Scott JM. Folate and vitamin B12. Proc Nutr Soc. 1999;58:441-448
37. Carmel R. Megaloblastic anemia: disorders of impaired DNA synthesis. In: greer JP Foerster J Rodgers GM. Wintrobe's Clinical Hematology Volume 1, 12th ed. Philadelphia: Lippincott Williams & Wilkins 2009: 1143-1172
38. Samson D, Halliday D, Chanarin I. Reversal of ineffective erythropoiesis in pernicious anaemia following vitamin B12 therapy. Br J Haematol. 1977;35:217-224
39. Honzik T, Adamovicova M, Smolka V, et al. Clinical presentation and metabolic consequences in 40 breastfed infants with nutritional vitamin B12 deficiency: what have we learned? Eur J Paediatr Neurol. 2010;14:488-495
40. Stabler SP, Allen RH, Barrett RE, et al. Cerebrospinal fluid methylmalonic acid levels in normal subjects and patients with cobalamin deficiency. Neurology. 1991;41:1627-1632
41. van Asselt DZ, Karlietis MH, Poels PJ, et al. Cerebrospinal fluid methylmalonic acid concentrations in neurological patients with low and normal serum cobalamin concentrations. Acta Neurol Scand. 1998;97:413-416
42. Beyoglu D, Idle JR. The glycine deportation system and its pharmacological consequences. Pharmacol Ther. 2012;135:151-167
43. Aliefendioglu D, Ay TA, Coşkun T, et al. Transient nonketotic hyperglycinemia: two case reports and literature review. Pediatr Neurol. 2003;28:151-155
44. Legendre P. The glycinergic inhibitory synapse. Cell Mol Life Sci. 2001;58:760-793
45. Lynch JW. Native glycine receptor subtypes and their physiological roles. Neuropharmacology. 2009;56:303-309
46. Grudzinska J, Schemm R, Haeger S, et al. The beta subunit determines the ligand binding properties of synaptic glycine receptors. Neuron. 2005;45:727-739
47. Tada K. Nonketotic hyperglycinemia: clinical and metabolic aspects. Enzyme. 1987;38:27-35
48. Lu FL, Wang P-J, Hwu WL, et al. Neonatal type of nonketotic hyperglycinemia: case report. Pediatr Neurol. 1999;20:295-300
49. Taskesen M, Yaramis A, Pirinccioglu AG, et al. Cranial magnetic resonance imaging findings of nutritional vitamin B12 deficiency in 15 hypotonic infants. Eur J Paediatr Neurol. 2012;16:266-270
50. Suzuki Y, Kure S, Oota M, et al. Nonketotic hyperglycinemia: proposal of a diagnostic and treatment strategy. Pediatr Neurol. 2010;43:221-224
51. Grattan-Smith PJ, Wilcken B, Procopis PG, et al. The neurological syndrome of infantile cobalamin deficiency: developmental regression and involuntary movements. Mov Disord. 1997;12:39-46
52. Ozer EA, Turker M, Bakiler AR, et al. Involuntary movements in infantile cobalamin deficiency appearing after treatment. Pediatr Neurol. 2001;25:81-83