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

Related Diseases:

Hyperinsulinemic hypoglycemia 4
HADH
HADH deficiency
HADH

References:

1.

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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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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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10.

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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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.

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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13.

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

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14.

NCBI article

NCBI 3033 external link
15.

OMIM.ORG article

Omim 601609 external link
16.

Orphanet article

Orphanet ID 122356 external link
17.

Wikipedia article

Wikipedia EN (Hydroxyacyl-Coenzyme_A_dehydrogenase) external link
Update: Aug. 14, 2020
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