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malonyl-CoA decarboxylase deficiency (MLYCD deficiency)
Genetics:
1) autosomal recessive disease
2) defects in MLYCD are the cause of MLYCD deficiency
Clinical manifestations:
1) abdominal pain
2) chronic constipation
3) episodic vomiting
4) metabolic acidosis
5) malonic aciduria
Related
malonyl-CoA decarboxylase, mitochondrial; MCD (MLYCD)
General
lipid metabolism, inborn error; lipid storage disease; lipidosis
Database Correlations
OMIM 248360
References
OMIM :accession 248360