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HADH deficiency

HADH deficiency is an autosomal recessive disorder that manifests in childhood and is characterized by muscular(hypotonia, myoglobinuria), cerebral (encephalopathia), hepatic (fulminant hepatic failure, centrilobular necrosis and lipid accumulation), and metabolic (hypoglycemia) symptoms.


The disorder is causes by beta-cell responsiveness to aminoacids, leucin in particular.[Error: Macro 'ref' doesn't exist]


Hypoglycemia responds to diazoxide. Dietary protein restriction is also recommended. Liver transplantation may be considered in patients with fulminant hepatic failure.


Hereditary metabolic diseases
Coenzyme Q10 deficiency
Congenital disorder of glycosylation
Disorders of cobalamin metabolism
Disorders of iron metabolism
Disorders of urate metabolism
Disturbances in phosphate metabolism
Disturbances of glucose metabolism
Food intolerance
Genetic hyperbilirubinemia
HADH deficiency
Hereditary disorders protein metabolism
Hereditary lipid disorders
Hypercatabolic hypoproteinemia
Hyperzincemia and hypercalprotectinemia
Hypomethylation syndrome
Lysosomal storage disease
MELAS syndrome
Methionine adenosyltransferase deficiency
Methylmalonic aciduria
Urea cycle disorders



Treacy EP et al. (2000) Short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency presenting as unexpected infant death: A family study.

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Yang SY et al. (2005) 3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease.

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Tein I et al. (1991) Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: a new cause for recurrent myoglobinuria and encephalopathy.

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Bennett MJ et al. (1996) Mitochondrial short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: a new defect of fatty acid oxidation.

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Bennett MJ et al. () Fatal hepatic short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: clinical, biochemical, and pathological studies on three subjects with this recently identified disorder of mitochondrial beta-oxidation.

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Li C et al. (2010) Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase.

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OMIM.ORG article

Omim 231530 external link

Wikipedia article

Wikipedia EN (3-hydroxyacyl-coenzyme_A_dehydrogenase_deficiency) external link
Update: Aug. 14, 2020
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