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|
|Hereditary disorders protein metabolism|
|Hereditary lipid disorders|
|Hyperzincemia and hypercalprotectinemia|
|Lysosomal storage disease|
|Methionine adenosyltransferase deficiency|
|Urea cycle disorders|
Treacy EP et al. (2000) Short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency presenting as unexpected infant death: A family study.
Yang SY et al. (2005) 3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease.
Tein I et al. (1991) Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: a new cause for recurrent myoglobinuria and encephalopathy.
Bennett MJ et al. (1996) Mitochondrial short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: a new defect of fatty acid oxidation.
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.
Li C et al. (2010) Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase.
OMIM.ORG articleOmim 231530
Wikipedia articleWikipedia EN (3-hydroxyacyl-coenzyme_A_dehydrogenase_deficiency)