Methylmalonyl-Coa Epimerase Deficiency (MCEED)

Alias:
Methylmalonic Acidemia Due to Methylmalonyl-Coa Epimerase Deficiency
Methylmalonyl-Coa Racemase Deficiency
Methylmalonic Aciduria Due to Methylmalonyl-Coa Epimerase Deficiency
Methylmalonic Acidemia Due to Methylmalonyl-Coa Racemase Deficiency
Methylmalonic Aciduria Due to Methylmalonyl-Coa Racemase Deficiency
Methylmalonic Aciduria Iii, Formerly
Methylmalonic Aciduria Type 3
Methylmalonic Aciduria Iii
Mcee Deficiency
Mceed
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Methylmalonyl-Coa Epimerase Deficiency, also known as methylmalonic acidemia due to methylmalonyl-coa epimerase deficiency, is related to dystonia, dopa-responsive, due to sepiapterin reductase deficiency and propionic acidemia. An important gene associated with Methylmalonyl-Coa Epimerase Deficiency is MCEE (Methylmalonyl-CoA Epimerase). Related phenotypes are spasticity and failure to thrive

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
2
7
10

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
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