Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

HADH gene

HADH gene codes a mitochondrial enzymed involved in the metabolism of fatty acids. Deficiencies cause an abnormally hight insulin secretion in response to a protein rich diet. Two autosomal recessive disorders HADH deficiency and neonatal hyperinsulinemic hypoglycemia are allelic variants.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Hyperinsulinemic hypoglycemia 4
HADH
HADH deficiency
HADH

References:

1.

He XY et al. (1999) Identity of heart and liver L-3-hydroxyacyl coenzyme A dehydrogenase.

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2.

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

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3.

Clayton PT et al. (2001) Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion.

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4.

Molven A et al. (2004) Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation.

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5.

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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6.

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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7.

He XY et al. (1989) Assay of L-3-hydroxyacyl-coenzyme A dehydrogenase with substrates of different chain lengths.

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8.

Noyes BE et al. (1973) L-3-hydroxyacyl coenzyme A dehydrogenase from pig heart muscle. I. Purification and properties.

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9.

Bitar KG et al. (1980) Amino acid sequence of L-3-hydroxyacyl CoA dehydrogenase from pig heart muscle.

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10.

Vredendaal PJ et al. (1996) Human short-chain L-3-hydroxyacyl-CoA dehydrogenase: cloning and characterization of the coding sequence.

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11.

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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12.

Vidnes J et al. (1977) Glucagon deficiency causing severe neonatal hypoglycemia in a patient with normal insulin secretion.

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13.

Vredendaal PJ et al. (1998) Structural organization of the human short-chain L-3-hydroxyacyl-CoA dehydrogenase gene.

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Update: Sept. 26, 2018