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Hyperargininemia.
J Pediatr. 1977 Apr; 90(4):569-73.JPed

Abstract

A 7 1/2-year-old boy had progressive psychomotor retardation, behavior disturbance, and spasticity, and had growth arrest from age three. Plasma arginine on a self-selected protein-poor diet was increased (4.05 mg/dl; nl 0.4 to 2.6), whereas urinary amino acid excretion was normal. Red blood cell arginase was less than 1% of normal in the patient and was half normal in both parents, in two normal siblings, and in his paternal grandfather. Three hours after a meal providing 2 gm protein/kg body weight, the plasma arginine value rose to 13.2 mg/dl, dibasic aminoaciduria was seen clearly for the only time, but blood ammonia concentration remained normal. We conclude that arginase deficiency in the red blood cells and probably in the liver is inherited in an autosomal recessive manner and is responsible for the clinical syndrome in this patient.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

839368

Citation

Cederbaum, S D., et al. "Hyperargininemia." The Journal of Pediatrics, vol. 90, no. 4, 1977, pp. 569-73.
Cederbaum SD, Shaw KN, Valente M. Hyperargininemia. J Pediatr. 1977;90(4):569-73.
Cederbaum, S. D., Shaw, K. N., & Valente, M. (1977). Hyperargininemia. The Journal of Pediatrics, 90(4), 569-73.
Cederbaum SD, Shaw KN, Valente M. Hyperargininemia. J Pediatr. 1977;90(4):569-73. PubMed PMID: 839368.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Hyperargininemia. AU - Cederbaum,S D, AU - Shaw,K N, AU - Valente,M, PY - 1977/4/1/pubmed PY - 1977/4/1/medline PY - 1977/4/1/entrez SP - 569 EP - 73 JF - The Journal of pediatrics JO - J. Pediatr. VL - 90 IS - 4 N2 - A 7 1/2-year-old boy had progressive psychomotor retardation, behavior disturbance, and spasticity, and had growth arrest from age three. Plasma arginine on a self-selected protein-poor diet was increased (4.05 mg/dl; nl 0.4 to 2.6), whereas urinary amino acid excretion was normal. Red blood cell arginase was less than 1% of normal in the patient and was half normal in both parents, in two normal siblings, and in his paternal grandfather. Three hours after a meal providing 2 gm protein/kg body weight, the plasma arginine value rose to 13.2 mg/dl, dibasic aminoaciduria was seen clearly for the only time, but blood ammonia concentration remained normal. We conclude that arginase deficiency in the red blood cells and probably in the liver is inherited in an autosomal recessive manner and is responsible for the clinical syndrome in this patient. SN - 0022-3476 UR - https://www.unboundmedicine.com/medline/citation/839368/Hyperargininemia_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0022-3476(77)80368-5 DB - PRIME DP - Unbound Medicine ER -