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PubMed 2013,Methylmalonic acidemia Mutations in the MUT , MMAA , MMAB , MMADHC , and MCEE genescausemethylmalonic acidemia
GeneReviews Mutations in the MUT , MMAA , MMAB , MMADHC , and MCEE genescausemethylmalonic acidemia
24406457 Mutations in MUTcausemethylmalonic acidemia
mutations in the MUT gene(passive) caused bymethylmalonic acidemia -
mutations ( or mistakes(passive) can be caused byMethylmalonic acidemia
cobalamin disorders A and B or aboutmethylmalonic acidemia with homocystinuria , which is caused by cobalamin disorders C , D , and(passive) caused bymethylmalonic acidemia
mutations in the MMADHC gene(passive) caused bymethylmalonic acidemia
mutations in the MMAB gene(passive) caused bymethylmalonic acidemia -
mutations in the MCEE gene(passive) caused bymethylmalonic acidemia -
mutations in other , unidentified genescausemethylmalonic acidemia
mutations in the MMAA gene(passive) caused bymethylmalonic acidemia -
Mutations in the MMAA , MMAB , and MUT genescausemethylmalonic acidemia
mutations in the MMUT gene and for which no approved therapies exist(passive) is ... caused byMethylmalonic acidemia
a deficiency in the activity of the enzyme methylmalonyl - CoA mutase(passive) is caused byMethylmalonic acidemia
builds up in the systemcausing" methylmalonic acidemia
a defect in the vitamin B12-dependent enzyme methylmalonyl CoA mutase(passive) is caused byMethylmalonic acidemia
methylmalonyl - CoA mutase deficiencies(passive) caused bymethylmalonic acidemia
cobalamin deficiencies A and B. Methylmalonic acidemia(passive) caused bymethylmalonic acidemia
Changes in the endocrine apparatus of the gastric mucosa in forms of cancer of varying originresultsMethylmalonic acidemia
Methylmalonyl CoA mutase deficiencyCausesMethylmalonic acidemia
a defect in methylmalonyl - CoA mutase , racemase or one of the enzymes involved in the synthesis of adenosylcobalamin , the essential cofactor of methylmalonyl - CoA mutase ( cblA and cblB(passive) is caused byMethylmalonic acidemia
having too little methylmalonyl - CoA mutase(passive) caused bymethylmalonic acidemia
pathogenic variants in the MUT , MMAA , MMAB , MMADHC or MCEE genes , as well as(passive) can be causedMethylmalonic acidemia
a deficiency in the mitochondrial enzyme methylmalonic - CoA mutase ( MUT(passive) caused byMethylmalonic acidemia
cobalamin A deficiencycausesMethylmalonic acidemia
defective enzyme system involved in Vitamin B12 metabolism(passive) is caused by• Methylmalonic Acidemia
deficiency of MUT(passive) caused byMethylmalonic acidemia
CblD defect(passive) caused bymethylmalonic acidemia
an underlying conditioncausingMethylmalonic acidemia
other medical conditionsmay ... causeMethylmalonic acidemia
Homozygous or compound heterozygous loss of function of MUT has been shownto causemethylmalonic acidemia
a downstream defect in the propionate metabolic pathway(passive) is caused byMethylmalonic acidemia
changes in several different genes(passive) is caused byMethylmalonic acidemia
from molecular cloning of methylmalonyl CoA mutase in : BioEssaysresultingfrom molecular cloning of methylmalonyl CoA mutase in : BioEssays
from molecular cloning of methylmalonyl CoA mutase ( 1990 ) Pharmaceutical Approach to Somatic Gene Therapy ( 1996resultingfrom molecular cloning of methylmalonyl CoA mutase ( 1990 ) Pharmaceutical Approach to Somatic Gene Therapy ( 1996
from the deficiency of the cobalamin - dependent enzyme methylmalonyl - CoA mutase ( 1resultsfrom the deficiency of the cobalamin - dependent enzyme methylmalonyl - CoA mutase ( 1
from genetic deficiency of methylmalonyl CoA mutase ( MCMresultingfrom genetic deficiency of methylmalonyl CoA mutase ( MCM
in metabolic acidosiscan resultin metabolic acidosis
As an autosomal or inherited disorder , the defect occurs specifically in the metabolic pathway where the enzyme methylmalonyl - CoA mutase converts methylmalonyl - coenzyme A.CausesAs an autosomal or inherited disorder , the defect occurs specifically in the metabolic pathway where the enzyme methylmalonyl - CoA mutase converts methylmalonyl - coenzyme A.
methylmalonyl CoA racemase deficiency(passive) are caused bymethylmalonyl CoA racemase deficiency
from defective adenosylcobalamin bindingresultingfrom defective adenosylcobalamin binding
Methylmalonyl CoA mutase deficiency(passive) are caused byMethylmalonyl CoA mutase deficiency
a stroke that makes me not able to walkcauseda stroke that makes me not able to walk
Complications of Methylmalonic acidemia(passive) are caused byComplications of Methylmalonic acidemia
from a defect in any of these stepsmay resultfrom a defect in any of these steps
breathing problems , brain swelling , stroke and coma ; and Biotinidase Deficiency , which can lead to developmental delays , hearing disorders and eczemacan causebreathing problems , brain swelling , stroke and coma ; and Biotinidase Deficiency , which can lead to developmental delays , hearing disorders and eczema
life - threatening conditions including seizures and strokescan causelife - threatening conditions including seizures and strokes
to a person remaining with undiagnosed Methylmalonic acidemialeadingto a person remaining with undiagnosed Methylmalonic acidemia
from a deficiency of 31resultsfrom a deficiency of 31
chronic tubulointerstital nephritis(passive) caused bychronic tubulointerstital nephritis
DanapreventsDana
Methylmalonic acidemia : Related Medical Conditions To research the causes of Methylmalonic acidemia , consider researching the causes of these these diseases that may be similar , or associated with Methylmalonic acidemia : Methylmalonic acidemia : Causes and Types Causes of Broader Categories of Methylmalonic acidemia : Review the causal information about the various more general categories of medical conditions : Methylmalonic acidemia as a symptomCausesMethylmalonic acidemia : Related Medical Conditions To research the causes of Methylmalonic acidemia , consider researching the causes of these these diseases that may be similar , or associated with Methylmalonic acidemia : Methylmalonic acidemia : Causes and Types Causes of Broader Categories of Methylmalonic acidemia : Review the causal information about the various more general categories of medical conditions : Methylmalonic acidemia as a symptom