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Differential HMG‐CoA lyase expression in human tissues provides clues about 3‐hydroxy‐3‐methylglutaric aciduria
Author(s) -
Puisac Beatriz,
Arnedo María,
Casale Cesar H.,
Ribate María Pilar,
Castiella Tomás,
Ramos Feliciano J.,
Ribes Antonia,
PérezCerdá Celia,
Casals Nuria,
Hegardt Fausto G.,
Pié Juan
Publication year - 2010
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/s10545-010-9097-3
Subject(s) - ketogenesis , endocrinology , medicine , biology , metabolism , ketone bodies
3‐Hydroxy‐3‐methylglutaric aciduria is a rare human autosomal recessive disorder caused by deficiency of 3‐hydroxy‐3‐methylglutaryl CoA lyase (HL). This mitochondrial enzyme catalyzes the common final step of leucine degradation and ketogenesis. Acute symptoms include vomiting, seizures and lethargy, accompanied by metabolic acidosis and hypoketotic hypoglycaemia. Such organs as the liver, brain, pancreas, and heart can also be involved. However, the pathophysiology of this disease is only partially understood. We measured mRNA levels, protein expression and enzyme activity of human HMG‐CoA lyase from liver, kidney, pancreas, testis, heart, skeletal muscle, and brain. Surprisingly, the pancreas is, after the liver, the tissue with most HL activity. However, in heart and adult brain, HL activity was not detected in the mitochondrial fraction. These findings contribute to our understanding of the enzyme function and the consequences of its deficiency and suggest the need for assessment of pancreatic damage in these patients.

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