Tags

Type your tag names separated by a space and hit enter

Arginase deficiency in multiple tissues in argininemia.
Clin Genet. 1978 Jan; 13(1):61-7.CG

Abstract

A 5 9/12-year-old Mexican female with argininemia presented at 4 years of age with severe growth retardation, microcephaly, mental retardation, loss of ability to walk, spasticity and epileptiform electroencephalogram. At follow-up, blood ammonia was elevated only twice out of 30 determinations. Blood arginine was 544 to 1,074 mumol/l (normal 61 to 173); cerebrospinal fluid arginine was 88 mumol/l (normal 6 to 29); and urinary arginine, citruline and argininosuccinic acid were consistently elevated. Arginase activities in tissues from the propositus were 0.01 mU/mg hemoglobin in erythrocytes (normal 29.8 to 96.1); 9 mU/mg protein in liver (normal 1,522 to 5,491); and 5 mU/mg protein in stratum corneum (normal 2,856 to 7,556). The demonstration of arginase deficiency in liver and stratum corneum suggests a generalized deficiency and helps to explain the elevation of blood arginine. Therapeutic trials of orally administered lysine to enhance dibasic amino acid competition and of enzyme replacement using erythrocyte transfusion did not result in significantly decreased blood arginine or clinical improvement.

Authors

No affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

624188

Citation

Michels, V V., and A L. Beaudet. "Arginase Deficiency in Multiple Tissues in Argininemia." Clinical Genetics, vol. 13, no. 1, 1978, pp. 61-7.
Michels VV, Beaudet AL. Arginase deficiency in multiple tissues in argininemia. Clin Genet. 1978;13(1):61-7.
Michels, V. V., & Beaudet, A. L. (1978). Arginase deficiency in multiple tissues in argininemia. Clinical Genetics, 13(1), 61-7.
Michels VV, Beaudet AL. Arginase Deficiency in Multiple Tissues in Argininemia. Clin Genet. 1978;13(1):61-7. PubMed PMID: 624188.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Arginase deficiency in multiple tissues in argininemia. AU - Michels,V V, AU - Beaudet,A L, PY - 1978/1/1/pubmed PY - 1978/1/1/medline PY - 1978/1/1/entrez SP - 61 EP - 7 JF - Clinical genetics JO - Clin. Genet. VL - 13 IS - 1 N2 - A 5 9/12-year-old Mexican female with argininemia presented at 4 years of age with severe growth retardation, microcephaly, mental retardation, loss of ability to walk, spasticity and epileptiform electroencephalogram. At follow-up, blood ammonia was elevated only twice out of 30 determinations. Blood arginine was 544 to 1,074 mumol/l (normal 61 to 173); cerebrospinal fluid arginine was 88 mumol/l (normal 6 to 29); and urinary arginine, citruline and argininosuccinic acid were consistently elevated. Arginase activities in tissues from the propositus were 0.01 mU/mg hemoglobin in erythrocytes (normal 29.8 to 96.1); 9 mU/mg protein in liver (normal 1,522 to 5,491); and 5 mU/mg protein in stratum corneum (normal 2,856 to 7,556). The demonstration of arginase deficiency in liver and stratum corneum suggests a generalized deficiency and helps to explain the elevation of blood arginine. Therapeutic trials of orally administered lysine to enhance dibasic amino acid competition and of enzyme replacement using erythrocyte transfusion did not result in significantly decreased blood arginine or clinical improvement. SN - 0009-9163 UR - https://www.unboundmedicine.com/medline/citation/624188/Arginase_deficiency_in_multiple_tissues_in_argininemia_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0009-9163&date=1978&volume=13&issue=1&spage=61 DB - PRIME DP - Unbound Medicine ER -