Affordable Access

Publisher Website

Hyperargininemia

Authors
Journal
The Journal of Pediatrics
0022-3476
Publisher
Elsevier
Publication Date
Volume
90
Issue
4
Identifiers
DOI: 10.1016/s0022-3476(77)80368-5
Disciplines
  • Biology

Abstract

A 71/2-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 <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.

There are no comments yet on this publication. Be the first to share your thoughts.

Statistics

Seen <100 times
0 Comments

More articles like this

Hyperargininemia.

on The Journal of Pediatrics April 1977

[Hyperargininemia].

on Nihon rinsho. Japanese journal... May 1978

Familial hyperargininemia.

on Journal de génétique humaine March 1972

Further investigations in hyperargininemia.

on Monographs in human genetics 1972
More articles like this..