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Methylmalonazidurie mit Homozysteinurie cblC

Methylmalonazidurie mit Homozysteinurie cblC ist eine autosomal rezessive Störung des Cobalamin-Stoffwechsels die durch Mutationen im MMACHC-Gen hervorgerufen wird.

Gliederung

Störungen des Cobalaminstoffwechsels
Homozysteinurie und megaloblastäre Anämie cblE
Homozysteinurie und megaloblastäre Anämie cblG
Klassische Homocysteinurie
Methylmalonazidurie Typ mut
Methylmalonazidurie cblA
Methylmalonazidurie cblB
Methylmalonazidurie mit Homozysteinurie cblC
MMACHC
Methylmalonazidurie mit Homozysteinurie cblD
Methylmalonazidurie mit Homozysteinurie cblF
Methylmalonazidurie mit Homozysteinurie cblJ

Referenzen:

1.

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

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2.

Mudd SH et al. (1970) Deranged B 12 metabolism: effects on sulfur amino acid metabolism.

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3.

Bartholomew DW et al. (1988) Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria.

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4.

Brandstetter Y et al. (1990) Cor pulmonale as a complication of methylmalonic acidemia and homocystinuria (Cbl-C type).

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5.

Russo P et al. (1992) A congenital anomaly of vitamin B12 metabolism: a study of three cases.

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6.

Gravel RA et al. (1975) Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism.

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7.

Mahoney MJ et al. (1975) Methylmalonicacidemia: biochemical heterogeneity in defects of 5'-deoxyadenosylcobalamin synthesis.

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8.

Baumgartner ER et al. (1979) Congenital defect in intracellular cobalamin metabolism resulting in homocysteinuria and methylmalonic aciduria. I. Case report and histopathology.

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9.

Mellman I et al. (1979) Cobalamin coenzyme synthesis in normal and mutant human fibroblasts. Evidence for a processing enzyme activity deficient in cblC cells.

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10.

Baumgartner ER et al. (1979) Congenital defect in intracellular cobalamin metabolism resulting in homocystinuria and methylmalonic aciduria. II. Biochemical investigations.

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11.

Schimel AM et al. (2006) The natural history of retinal degeneration in association with cobalamin C (cbl C) disease.

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12.

Van Hove JL et al. (2002) Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy.

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13.

Andersson HC et al. () Long-term outcome in treated combined methylmalonic acidemia and homocystinemia.

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14.

Enns GM et al. (1999) Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin.

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15.

Cerone R et al. (1999) Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism.

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16.

Rosenblatt DS et al. (1997) Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC).

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17.

Shinnar S et al. (1984) Cobalamin C mutation (methylmalonic aciduria and homocystinuria) in adolescence. A treatable cause of dementia and myelopathy.

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18.

None (1969) Vascular pathology of homocysteinemia: implications for the pathogenesis of arteriosclerosis.

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19.

Mudd SH et al. (1969) A derangement in B 12 metabolism leading to homocystinemia, cystathioninemia and methylmalonic aciduria.

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20.

Mudd SH et al. (1970) Deranged B 12 metabolism: studies of fibroblasts grown in tissue culture.

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21.

Goodman SI et al. (1970) Homocystinuria with methylmalonic aciduria: two cases in a sibship.

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22.

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

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23.

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

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24.

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

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25.

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

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26.

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

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27.

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

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28.

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

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29.

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

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30.

Mellman IS et al. (1979) Genetic control of cobalamin binding in normal and mutant cells: assignment of the gene for 5-methyltetrahydrofolate:L-homocysteine S-methyltransferase to human chromosome 1.

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31.

OMIM.ORG article

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Update: 14. August 2020
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