malonyl-CoA decarboxylase deficiency (MLYCD deficiency)

Genetics

• autosomal recessive disease
• defects in MLYCD are the cause of MLYCD deficiency

Clinical manifestations

• abdominal pain
• chronic constipation
• episodic vomiting
• metabolic acidosis
• malonic aciduria

More general terms

• lipid metabolism, inborn error; lipid storage disease; lipidosis

Additional terms

• malonyl-CoA decarboxylase, mitochondrial; MCD (MLYCD)

Database

• OMIM: https://mirror.omim.org/entry/248360