Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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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.

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.

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2.

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

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3.

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

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4.

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

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5.

NCBI article

NCBI 7421 external link
6.

OMIM.ORG article

Omim 601769 external link
7.

Wikipedia article

Wikipedia EN (Calcitriol_receptor) external link
Update: Aug. 14, 2020
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