Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Störungen des Cobalaminstoffwechsels

Die Cobalamin-Stoffwechselstörungen überlappen mit der Methylmalonazidurie, da der Methylmalonazidurie eine Störung des Cobalamin-Stoffwechsels zugrunde liegt. Es sind autosomal rezessive Stoffwechselerkrankungen bei denen sich neben der erhöhten Konzentration von Methylmalonsäure in Blut und Urin auch megaloblastäre Anämien finden lassen.

Symptome

Anämie
Bei Cobalaminstoffwechselstörungen ist die Anämie makrozytär.

Gliederung

Erbliche Stoffwechselerkrankungen
Coenzym Q10-Mangel
Erbliche Fettstoffwechselerkrankungen
Genetisch bedingte Hyperbilirubinämie
Glycolipidose
HADH-Mangel
Hereditäre Störungen des Proteinmetabolismus
Hyperkatabole Hypoproteinämie
Hyperzinkämie und Hypercalprotectinämie
Hypomagnesiämie
Hypomethylierungs-Syndrom
Kongenitale Glykosilierungsstörung
Lebensmittelunverträglichkeiten
Lysosomale Speicherkrankheiten
MELAS-Syndrom
Methioninadenosyltransferase-Mangel
Methylmalonazidurie
Störungen des Cobalaminstoffwechsels
Homozysteinurie und megaloblastäre Anämie cblE
MTRR
Homozysteinurie und megaloblastäre Anämie cblG
MTR
Klassische Homocysteinurie
CBS
Methylmalonazidurie Typ mut
MUT
Methylmalonazidurie cblA
MMAA
Methylmalonazidurie cblB
MMAB
Methylmalonazidurie mit Homozysteinurie cblC
MMACHC
Methylmalonazidurie mit Homozysteinurie cblD
MMADHC
Methylmalonazidurie mit Homozysteinurie cblF
LMBRD1
Methylmalonazidurie mit Homozysteinurie cblJ
ABCD4
Störungen des Eisenstoffwechsels
Störungen des Glucosestoffwechsels
Störungen des Harnstoffzyklus
Störungen des Harnsäurestoffwechsels
Störungen des Phosphathaushaltes

Referenzen:

1.

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

external link
2.

Mellman I et al. (1978) Cobalamin binding and cobalamin-dependent enzyme activity in normal and mutant human fibroblasts.

external link
3.

Fenton WA et al. (1978) Genetic and biochemical analysis of human cobalamin mutants in cell culture.

external link
4.

Carmel R et al. (1980) Congenital methylmalonic aciduria--homocystinuria with megaloblastic anemia: observations on response to hydroxocobalamin and on the effect of homocysteine and methionine on the deoxyuridine suppression test.

external link
5.

Watkins D et al. (2000) Complementation studies in the cblA class of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH).

external link
6.

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

external link
7.

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

external link
8.

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

external link
9.

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

external link
10.

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

external link
11.

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

external link
12.

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

external link
13.

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

external link
14.

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

external link
15.

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

external link
16.

Kaplan P et al. (2006) Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency.

external link
17.

Kruszka PS et al. (2013) Renal growth in isolated methylmalonic acidemia.

external link
18.

Testai FD et al. (2010) Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders.

external link
19.

Acquaviva C et al. (2001) N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients.

external link
20.

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

external link
21.

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

external link
22.

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

external link
23.

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

external link
24.

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

external link
25.

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

external link
26.

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

external link
27.

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

external link
28.

Cooper BA et al. (1990) Methylmalonic aciduria due to a new defect in adenosylcobalamin accumulation by cells.

external link
29.

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

external link
30.

Suormala T et al. (2004) The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.

external link
31.

Coelho D et al. (2008) Gene identification for the cblD defect of vitamin B12 metabolism.

external link
32.

Stucki M et al. (2012) Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism.

external link
33.

Willard HF et al. (1978) Genetic complementation among inherited deficiencies of methylmalonyl-CoA mutase activity: evidence for a new class of human cobalamin mutant.

external link
34.

OMIM.ORG article

Omim 251000 external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz