Malonyl-Coa Decarboxylase Deficiency (MLYCD DEFICIENCY)

Alias:
Malonic Aciduria
Deficiency of Malonyl-Coa Decarboxylase
Malonyl-Coenzyme a Decarboxylase Deficiency
Mlycd Deficiency
Malonic Acidemia
Mcd Deficiency
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Malonyl-Coa Decarboxylase Deficiency, also known as malonic aciduria, is related to combined malonic and methylmalonic aciduria and atrial standstill 1, and has symptoms including abdominal pain, diarrhea and seizures. An important gene associated with Malonyl-Coa Decarboxylase Deficiency is MLYCD (Malonyl-CoA Decarboxylase). Affiliated tissues include heart and brain, and related phenotypes are pachygyria and intellectual disability

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
<1/1000000
1
8
16

Medical Symptom

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

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top