Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Mitochondriales Methylmalonazidurie mit Homozysteinurie Typ C Protein

Das MMACHC-Gen kodiert ein mitochondriales Protein, welches im Cobalamin-Stoffwechsel beteiligt ist. Mutationen verursachen die autosomal rezessive Methylmalonazidurie mit Homozysteinurie cblC

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Methylmalonazidurie mit Homozysteinurie cblC
MMACHC

Referenzen:

1.

Bodamer OA et. al. (2001) Adult-onset combined methylmalonic aciduria and homocystinuria (cblC).

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2.

Lerner-Ellis JP et. al. (2006) Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.

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3.

Morel CF et. al. (2006) Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.

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4.

Ben-Omran TI et. al. (2007) Late-onset cobalamin-C disorder: a challenging diagnosis.

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5.

Tsai AC et. al. (2007) Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.

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6.

Lerner-Ellis JP et. al. (2009) Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.

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7.

Liu MY et. al. (2010) Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.

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8.

Kömhoff M et. al. (2013) Combined pulmonary hypertension and renal thrombotic microangiopathy in cobalamin C deficiency.

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9.

Sharma AP et. al. (2007) Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder.

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