Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Methylmalonazidurie Typ mut

Methylmalonazidurie aufgrund des mitochondrialen Methylmalonyl-CoA-Mutase-Mangels ist eine autosomal rezessive Störung des Cobalamin-Stoffwechsels die durch Mutationen im MUT-Gen hervorgerufen wird.

Gliederung

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

Referenzen:

1.

Crane AM et. al. (1992) Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria.

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2.

Ledley FD et. al. (1990) Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes muto methylmalonic acidemia.

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3.

None (1990) Perspectives on methylmalonic acidemia resulting from molecular cloning of methylmalonyl CoA mutase.

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4.

Jansen R et. al. (1990) Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning.

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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10.

Wilcken B et. al. (1977) Methylmalonic aciduria: a variant form of methylmalonyl coenzyme A apomutase deficiency.

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11.

Rosenberg LE et. al. (1969) Vitamin B12 dependent methylmalonicaciduria: defective B12 metabolism in cultured fibroblasts.

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12.

Rosenberg LE et. al. (1968) Methylmalonic aciduria. An inborn error leading to metabolic acidosis, long-chain ketonuria and intermittent hyperglycinemia.

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13.

Rosenberg LE et. al. (1968) Methylmalonic aciduria: metabolic block localization and vitamin B 12 dependency.

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14.

Matsui SM et. al. (1983) The natural history of the inherited methylmalonic acidemias.

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15.

Giorgio AJ et. al. (1976) Methylmalonic aciduria without vitamin B12 deficiency in an adult sibship.

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16.

Willard HF et. al. (1977) Inherited deficiencies of human methylmalonyl CaA mutase activity: reduced affinity of mutant apoenzyme for adenosylcobalamin.

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17.

van den Bergh FA et. al. (1992) Methylmalonic aciduria and sudden child death.

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18.

Shoemaker JD et. al. (1992) Misidentification of propionic acid as ethylene glycol in a patient with methylmalonic acidemia.

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19.

Woolf AD et. al. (1992) Intentional infantile ethylene glycol poisoning presenting as an inherited metabolic disorder.

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20.

Wilkemeyer MF et. al. (1991) Differential diagnosis of mut and cbl methylmalonic aciduria by DNA-mediated gene transfer in primary fibroblasts.

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21.

None (1991) Scientific sleuths solve a murder mystery.

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22.

Fowlow SB et. al. (1985) Screening for methylmalonic aciduria in Alberta: a voluntary program with particular significance for the Hutterite Brethren.

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23.

Morrow G et. al. (1969) Congenital methylmalonic acidemia: enzymatic evidence for two forms of the disease.

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24.

Hsia YE et. al. (1970) Vitamin B12-dependent methylmalonicaciduria: amino acid toxicity, long chain ketonuria, and protective effect of vitamin B12.

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25.

Barness LA et. al. (1968) Methylmalonic aciduria. A newly discovered inborn error.

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26.

Oberholzer VG et. al. (1967) Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis.

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27.

Kolhouse JF et. al. (1981) Immunochemical studies on cultured fibroblasts from patients with inherited methylmalonic acidemia.

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28.

Ledley FD et. al. (1984) Benign methylmalonic aciduria.

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29.

Satoh T et. al. (1981) Dietary therapy in two patients with vitamin B12-unresponsive methylmalonic acidemia.

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30.

Shevell MI et. al. (1993) Varying neurological phenotypes among muto and mut- patients with methylmalonylCoA mutase deficiency.

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31.

Abramowicz MJ et. al. (1994) Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus.

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32.

Van Calcar SC et. al. (1998) Renal transplantation in a patient with methylmalonic acidaemia.

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33.

Wasserstein MP et. al. (1999) Successful pregnancy in severe methylmalonic acidaemia.

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