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Treatment of hyperargininaemia due to arginase deficiency with a chemically defined diet.
J Inherit Metab Dis. 1982; 5(2):95-9.JI

Abstract

A brother and sister aged 11 and 17 years have been reported previously to have hyperargininaemia and arginase deficiency: they were treated with a semi-synthetic diet consisting of fat, carbohydrate, minerals, vitamins and essential amino acids in amounts equivalent to 0.55-0.65 g protein kg-1 day-1 for 2 years. Plasma arginine levels fell from 0.50-0.90 mumol/1 to 0.13-0.30 mumol/1 (normal range 0.02-0.15). Increased concentrations of arginine in the cerebrospinal fluid (CSF) fell from 0.069-0.098 mumol/l to 0.040-0.056 mumol/l (normal mean +/- SD = 0.020 +/- 0.006). Dibasic aminoaciduria returned to normal within 1 week. Substitution of the keto-acid analogues of five essential amino acids in the formula lowered arginine concentrations further, but proved to be unpalatable. Urinary concentrations of orotic acid, uridine and uracil fell toward normal but remained increased, even when the plasma ammonia concentration was measured as normal. Both patients showed a stable clinical improvement.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

6820432

Citation

Cederbaum, S D., et al. "Treatment of Hyperargininaemia Due to Arginase Deficiency With a Chemically Defined Diet." Journal of Inherited Metabolic Disease, vol. 5, no. 2, 1982, pp. 95-9.
Cederbaum SD, Moedjono SJ, Shaw KN, et al. Treatment of hyperargininaemia due to arginase deficiency with a chemically defined diet. J Inherit Metab Dis. 1982;5(2):95-9.
Cederbaum, S. D., Moedjono, S. J., Shaw, K. N., Carter, M., Naylor, E., & Walzer, M. (1982). Treatment of hyperargininaemia due to arginase deficiency with a chemically defined diet. Journal of Inherited Metabolic Disease, 5(2), 95-9.
Cederbaum SD, et al. Treatment of Hyperargininaemia Due to Arginase Deficiency With a Chemically Defined Diet. J Inherit Metab Dis. 1982;5(2):95-9. PubMed PMID: 6820432.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Treatment of hyperargininaemia due to arginase deficiency with a chemically defined diet. AU - Cederbaum,S D, AU - Moedjono,S J, AU - Shaw,K N, AU - Carter,M, AU - Naylor,E, AU - Walzer,M, PY - 1982/1/1/pubmed PY - 1982/1/1/medline PY - 1982/1/1/entrez SP - 95 EP - 9 JF - Journal of inherited metabolic disease JO - J. Inherit. Metab. Dis. VL - 5 IS - 2 N2 - A brother and sister aged 11 and 17 years have been reported previously to have hyperargininaemia and arginase deficiency: they were treated with a semi-synthetic diet consisting of fat, carbohydrate, minerals, vitamins and essential amino acids in amounts equivalent to 0.55-0.65 g protein kg-1 day-1 for 2 years. Plasma arginine levels fell from 0.50-0.90 mumol/1 to 0.13-0.30 mumol/1 (normal range 0.02-0.15). Increased concentrations of arginine in the cerebrospinal fluid (CSF) fell from 0.069-0.098 mumol/l to 0.040-0.056 mumol/l (normal mean +/- SD = 0.020 +/- 0.006). Dibasic aminoaciduria returned to normal within 1 week. Substitution of the keto-acid analogues of five essential amino acids in the formula lowered arginine concentrations further, but proved to be unpalatable. Urinary concentrations of orotic acid, uridine and uracil fell toward normal but remained increased, even when the plasma ammonia concentration was measured as normal. Both patients showed a stable clinical improvement. SN - 0141-8955 UR - https://www.unboundmedicine.com/medline/citation/6820432/Treatment_of_hyperargininaemia_due_to_arginase_deficiency_with_a_chemically_defined_diet_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0141-8955&date=1982&volume=5&issue=2&spage=95 DB - PRIME DP - Unbound Medicine ER -