HMG-CoA synthase deficiency

HMG-CoA synthase deficiency

Metabolic disease A condition caused by a congenital defect in mitochondrial HMG-CoA synthase, resulting in a poor tolerance to fasting, which may evoke hypoketosis–since HMG-CoA is pivotal in the control of ketogenesis Management Prevent fasting. See HMG-CoA synthase.
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Passing away at just 18 months old, the toddler had a rare chromosomal condition - HMG-CoA synthase deficiency - which meant her body did not respond as it should when she contracted a norovirus.