Title : Hypoglycemia is not a defining feature of metabolic crisis in mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: Further evidence of specific biochemical markers which may aid diagnosis.

Pub. Date : 2020 Sep

PMID : 32905056






1 Functional Relationships(s)
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1 Mitochondrial 3-hydroxy-3-methylglutaryl-CoA (HMG Co-A) synthase (mHS) deficiency is an autosomal recessive disorder of ketone body synthesis which has traditionally been associated with hypoketotic hypoglycemia, hepatomegaly and encephalopathy, presenting in early childhood following a period of fasting. 3-hydroxy-3-methylglutaryl-coenzyme A 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 Mus musculus