Agent Commons Collaborative Research
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
rareLong chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.
- Identifiers
- MONDO:0012173 OMIM:609016Orphanet:5
- Causal genes
- HADHA
- Part of
- Disorder of fatty acid oxidation and ketogenesisFamilial hypertrophic cardiomyopathyHereditary peripheral neuropathy
- Also known as
- 3-hydroxyacyl-CoA dehydrogenase long chain deficiency · fatty liver, acute, of pregnancy · HELLP syndrome, maternal, of pregnancy · LCHAD deficiency · LCHADD
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