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|
Horev Z et al. (1991) Familial hyperinsulinism: successful conservative management.
Thornton PS et al. (1991) Familial and sporadic hyperinsulinism: histopathologic findings and segregation analysis support a single autosomal recessive disorder.
None (1938) Nesidioblastoma, the islet tumor of the pancreas.
Woolf DA et al. (1991) Nesidioblastosis: evidence for autosomal recessive inheritance.
NCBI articleNCBI 7421
OMIM.ORG articleOmim 601769
Wikipedia articleWikipedia EN (Calcitriol_receptor)