Intravenous glycerol therapy should not be used in patients with unrecognized fructose-1,6-bisphosphatase deficiency

Pediatrics International

Volumn 45, Issue 1, 2003, Pages 5-9

  Hasegawa, Yukihiro ^a   Kikawa, Yoshiharu ^b   Miyamaoto, Junko ^a   Sugimoto, Shuji ^c   Adachi, Masanori ^d   Ohura, Toshihiro ^e   Mayumi, Mitsufumi ^b  

^a Endocrinol Metab/Genetics Unit   (Japan)

^b UNIVERSITY OF FUKUI   (Japan)

^c TOTTORI UNIVERSITY   (Japan)

^d KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^e TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Brain edema; Dialysis; Fructose 1,6 bisphosphatase deficiency; Glycerol; Hypoglycemic attack

Indexed keywords

BICARBONATE; FRUCTOSE; FRUCTOSE BISPHOSPHATASE; GLUCOSE; GLYCEROL; LACTIC ACID;

ADOLESCENT; ARTICLE; ASIA; BRAIN EDEMA; CHILD; CLINICAL ARTICLE; DIALYSIS; DRUG FATALITY; ENZYME DEFICIENCY; FEMALE; FRUCTOSE 1,6 BISPHOSPHATASE DEFICIENCY; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HYPOGLYCEMIA; INFANT; JAPAN; LACTATE BLOOD LEVEL; MALE; METABOLIC ACIDOSIS; NEUROTOXICITY; NEWBORN; PRIORITY JOURNAL; PROGNOSIS; RETROSPECTIVE STUDY; TREATMENT OUTCOME;

BRAIN EDEMA; CHILD, PRESCHOOL; COMORBIDITY; CRYOPROTECTIVE AGENTS; FEMALE; FRUCTOSE-1,6-DIPHOSPHATASE DEFICIENCY; GLYCEROL; HUMANS; HYPOGLYCEMIA; INFANT; INFANT, NEWBORN; MALE; PROGNOSIS; RETROSPECTIVE STUDIES;

EID: 0242516001     PISSN: 13288067     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1442-200X.2003.01662.x     Document Type: Article

References (15)

1. Baker L, Winegrad AI. Fasting hypoglycemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity. Lancet 1970; 2: 13-16.
2. Emery JL, Howat AJ, Variend S, Vawter GW. Investigation of inborn errors of metabolism in unexpected infant deaths. Lancet 1988; 2: 29-31.
3. Steinmann B, Gitzelmann R, van den Berghe G. Essential fructosuria hereditary fructose intolerance, and fructose-1,6-diphosphatase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The Metabolic Basis of Inherited Disease. McGraw Hill, New York, 2001; 1489-520.
4. Burton BK. Inherited metabolic disorders. In: Avery GB, Fletcher MA, MacDonald MG (eds). Neonatology: Pathophysiology and Management of the Newborn. Lippincott Williams & Wilkins, Philadelphia, 1999; 821-37.
5. Hill A, Volpe JJ. Neurological and neuromuscular disorders. In: Avery GB, Fletcher MA, MacDonald MG (eds). Neonatology; Pathophysiology and Management of the Newborn. Lippincott Williams & Wilkins, Philadelphia, 1999; 1231-52.
6. Greene CL, Blitzer MG, Shapira E. Inborn errors of metabolism and Reye syndrome: Differential diagnosis. J. Pediatr. 1988; 113: 156-9.
7. Zammarchi E, Donati MA, Ciani F, Rubetti P, Pasquini E. Fructose-1,6-diphosphatase deficiency misdiagnosed as Reye syndrome. Clin. Pediatr. (Phila). 1995; 34: 561-4.
8. MacDonald JT, Uden DL. Intravenous glycerol and mannitol therapy in children with intracranial hypertension. Neurology 1982; 32: 437-40.
9. Vannucci RC. Current and potentially new management strategies for perinatal hypoxic-ischemic encephalopathy. Pediatrics 1990; 85: 961-8.
10. Rosman NP. Acute head trauma. In: Osaki FA, DeAngelis CD, Feigin RD, McMillan JA, Warshaw JB (eds). Principles and Practice of Pediatrics. Lippincott, Williams & Wilkins, Philadelphia, 1994; 2038-43.
11. Luerssen TG, Marshall L. The medical management of head injury. In: Braakman R (ed.) Handbook of Clinical Neurology, vol. 13. Elsevier, Amsterdam, 1990; 207-15.
12. Kikawa Y, Inuzuka M, Jin BY et al. Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency. Am. J. Hum. Genet. 1997; 61: 852-61.
13. Taunton OD, Greene HL, Stifel FB et al. Fructose-1,6-diphosphatase deficiency, hypoglycemia, and response to folate therapy in a mother and her daughter. Biochem. Med. 1978; 19: 260-76.
14. Japanese Pharmaceutical Information Center (ed.) Drugs in Japan: Ethical Drugs 2000. Yakugyojihousha, Tokyo, 2000; 562-3 (in Japanese).
15. Steinmann B, Gitzelmann R. The diagnosis of hereditary fructose intolerance. Helv. Paediatr. Acta 1981; 36: 297-316.