Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

HADH-Gen

Das HADH-Gen kodiert ein mitochondrales Enzym des Fettstoffwechsels. Funktionsverluste führen zu einer abnorm gesteigerten Insulinsekretion, insbesondere als Antwort auf eine proteinreiche Kost. Die beiden autosomal rezessiven Erkrankungen der HADH-Mangel und die neonatale hyperinsulinämische Hypoglykämie Typ 4 werden jeweils durch unterschiedliche Mutationen.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Hyperinsulinämische Hypoglycämie 4
HADH
HADH-Mangel
HADH

Referenzen:

1.

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

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2.

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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3.

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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4.

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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5.

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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6.

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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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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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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14.

NCBI article

NCBI 3033 [^]
15.

OMIM.ORG article

Omim 601609 [^]
16.

Orphanet article

Orphanet ID 122356 [^]
Update: 9. Mai 2019