hydroxymethylglutaric aciduria

'hydroxymethylglutaric aciduria' can also refer to...


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An autosomal recessive disease characterized by hypoglycemia, metabolic acidosis, hyperammonemia, and excessive urinary excretion of hydroxymethylglutarate. It can lead to coma and death in infancy. It is caused by inactivating mutations in the gene (at 1p35.1) for hydroxymethylglutaryl‐CoA lyase.


Subjects: Chemistry.

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