Mitochondriales Methylmalonazidurie mit Homozysteinurie Typ D Protein
Das MMADHC-Gen kodiert ein mitochondriales Protein, welches im Cobalamin-Stoffwechsel beteiligt ist. Mutationen verursachen die autosomal rezessive Methylmalonazidurie mit Homozysteinurie cblD.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Cooper BA et al. (1990) Methylmalonic aciduria due to a new defect in adenosylcobalamin accumulation by cells.
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2. |
Goodman SI et al. (1970) Homocystinuria with methylmalonic aciduria: two cases in a sibship.
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3. |
Suormala T et al. (2004) The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.
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4. |
Coelho D et al. (2008) Gene identification for the cblD defect of vitamin B12 metabolism.
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5. |
Stucki M et al. (2012) Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism.
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6. |
NCBI article
NCBI 27249
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7. |
OMIM.ORG article
Omim 611935
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8. |
Orphanet article
Orphanet ID 171059
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Update: 14. August 2020