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 |
Verknüpfte Erkrankungen:
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
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15. |
OMIM.ORG article
Omim 601609
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16. |
Orphanet article
Orphanet ID 122356
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Update: 14. August 2020