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.

Pathogenesis

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

Management

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

Systematic

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
	Glycolipidosis
	HADH deficiency
		HADH
	Hereditary disorders protein metabolism
	Hereditary lipid disorders
	Hypercatabolic hypoproteinemia
	Hyperzincemia and hypercalprotectinemia
	Hypomagnesemia
	Hypomethylation syndrome
	Lysosomal storage disease
	MELAS syndrome
	Methionine adenosyltransferase deficiency
	Methylmalonic aciduria
	Urea cycle disorders

References:

1.	Horev Z et al. (1991) Familial hyperinsulinism: successful conservative management.

2.	Thornton PS et al. (1991) Familial and sporadic hyperinsulinism: histopathologic findings and segregation analysis support a single autosomal recessive disorder.

3.	None (1938) Nesidioblastoma, the islet tumor of the pancreas.

4.	Woolf DA et al. (1991) Nesidioblastosis: evidence for autosomal recessive inheritance.

5.	NCBI article NCBI 7421

6.	OMIM.ORG article Omim 601769

7.	Wikipedia article Wikipedia EN (Calcitriol_receptor)