3-Hydroxy-3-methylglutaric Aciduria

Overview

Journal J Neurogenet

Publisher Informa Healthcare

Specialties Genetics
Neurology

Date 1984 Apr 1

PMID 6085636

Citations 9

Authors

C L Greene

H M Cann

B H Robinson

K M Gibson

L Sweetman

J Holm

W L Nyhan

Affiliations

Soon will be listed here.

Abstract

3-Hydroxy-3-methylglutaric aciduria was found in a newborn infant whose parents are first cousins. The patient presented at 5 days of life with hyperammonemia, hypoglycemia, and metabolic acidosis. There was no ketonuria. Diagnosis was made by analysis of the pattern of organic acids excreted in the urine. A profound deficiency in activity of 3-hydroxy-3-methylglutaryl-coenzyme A lyase was found in cultured skin fibroblasts. The parents had intermediate levels of enzyme activity.

Citing Articles

HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.

Mitchell G, Ozand P, Robert M, Ashmarina L, Roberts J, Gibson K Am J Hum Genet. 1998; 62(2):295-300.

PMID: 9463337 PMC: 1376904. DOI: 10.1086/301730.

Genetic complementation analysis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency in cultured fibroblasts.

Sovik O, Sweetman L, Gibson K, Nyhan W Am J Hum Genet. 1984; 36(4):791-801.

PMID: 6475954 PMC: 1684482.

3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normal.

Gibson K, Nyhan W, Sweetman L, Narisawa K, Lehnert W, DIVRY P Eur J Pediatr. 1988; 148(1):76-82.

PMID: 3197737 DOI: 10.1007/BF00441821.

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients.

Gibson K, Breuer J, Kaiser K, Nyhan W, McCoy E, Ferreira P J Inherit Metab Dis. 1988; 11(1):76-87.

PMID: 3128690 DOI: 10.1007/BF01800058.

3-Hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: a review.

Wysocki S, Hahnel R J Inherit Metab Dis. 1986; 9(3):225-33.

PMID: 3099065 DOI: 10.1007/BF01799652.