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HADH – 3-hydroxyacyl-CoA dehydrogenase deficiency

HADH encodes short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD), a mitochondrial enzyme critical for fatty acid β-oxidation. Recessive loss-of-function mutations in HADH cause 3-hydroxyacyl-CoA dehydrogenase deficiency, presenting in infancy with hypoketotic hypoglycaemia, hepatopathy, secondary carnitine deficiency, and accumulation of long-chain acylcarnitines (PMID:7813533). Diagnosis is established by reduced SCHAD activity in cultured skin fibroblasts, confirming the biochemical defect (PMID:7813533).

References

  • European journal of pediatrics | 1994 | Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a severe fatty acid oxidation disorder. PMID:7813533

Evidence Based Scoring (AI generated)

Gene–Disease Association

Limited

Single proband with biochemical confirmation in cultured fibroblasts (PMID:7813533)

Genetic Evidence

Limited

One reported proband with definitive enzymatic diagnosis in fibroblasts (PMID:7813533)

Functional Evidence

Moderate

Enzymatic assays in patient fibroblasts confirm loss of SCHAD activity (PMID:7813533)