Premium
3‐Hydroxy‐3‐methylglutaryl‐coenzyme A lyase deficiency: Biochemical studies and family investigation of four generations
Author(s) -
Barash V.,
Mandel H.,
Sella S.,
Geiger R.
Publication year - 1990
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799678
Subject(s) - coenzyme a , human genetics , metabolic disease , biochemistry , enzyme , lyase , chemistry , genetics , medicine , endocrinology , biology , gene , reductase
Summary 3‐hydroxy‐3‐methyl‐glutaryl‐CoA (HMG‐CoA) lyase activity was determined by the recently described spectrophotometric method of Wanders et al. (1988a) in polymorphonuclear leukocytes and lymphocytes obtained from 33 members of a highly consanguineous Arab‐Bedouin family belonging to four generations. Seven subjects were obligatory heterozygotes (parents and grandparents of three propositi); in seven additional subjects enzyme activity in both cell types was in the heterozygote range. No asymptomatic homozygotes were found. The results support the proposed autosomal recessive mode of inheritance of this disorder.