Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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
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.

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.

[^]
2.

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

[^]
3.

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

[^]
4.

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

[^]
5.

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

[^]
6.

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

[^]
7.

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

[^]
8.

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

[^]
9.

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

[^]
10.

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

[^]
11.

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

[^]
12.

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

[^]
13.

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

[^]
14.

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

[^]
15.

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

[^]
16.

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

[^]
17.

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

[^]
18.

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

[^]
19.

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

[^]
20.

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

[^]
21.

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

[^]
22.

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

[^]
23.

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

[^]
24.

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

[^]
25.

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

[^]
26.

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

[^]
27.

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

[^]
28.

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

[^]
29.

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

[^]
30.

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

[^]