3-hydroxy-3-methylglutaryl-CoA synthase deficiency

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3-hydroxy-3-methylglutaryl-CoA synthase deficiency

Synonyms: HMG-CoA synthase deficiency

3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism (see this term) reported in less than 20 patients to date characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting lethargy hepatomegaly non ketotic hypoglycemia and in rare cases coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

MitoAction

MitoAction’s mission is to improve the quality of life for children, adults, and families living with mitochondrial disease through support, education, outreach, advocacy, clinical research initiatives and by granting wishes for children affected by mitochondrial disease.

Clinical Trials

For a list of clinical trials in this disease area, please click here.