What is MALONYL-COA DECARBOXYLASE DEFICIENCY?

very rare (<1:200000) autosomal recessive mutation in the MLYCD gene

Gibt es eine deutsche Bezeichnung?

Malonazidurie; Malonyl-CoA-Decarboxylase-Mangel

Which enzymes are involved?

Malonyl-CoA decarboxylase, mitochondrial

MALONYL-COA DECARBOXYLASE DEFICIENCY

Q: What is MALONYL-COA DECARBOXYLASE DEFICIENCY?

very rare (<1:200000) autosomal recessive mutation in the MLYCD gene

Q: Gibt es eine deutsche Bezeichnung?

Malonazidurie; Malonyl-CoA-Decarboxylase-Mangel

Q: Which enzymes are involved?

Malonyl-CoA decarboxylase, mitochondrial

Disease	MALONYL-COA DECARBOXYLASE DEFICIENCY
Synonym	MALONIC ACIDURIA
OMIM	248360 OMIM = Online Mendelian Inheritance of Men
Orphanet	943
Protein (UniProt)	Malonyl-CoA decarboxylase, mitochondrial
ExPASy	4.1.1.9
Gene locus	16q23.3
ICD	E72.8
Summary	very rare (<1:200000) autosomal recessive mutation in the MLYCD gene
Laboratory findings	Methylmalonic acid inc (urine) Acylcarnitine/carnitine ratio inc (urine) Adipic acid normal/inc (urine) Ammonia normal/inc (blood) Cholesterol n/d (plasma) D-Glucose normal/dec (serum) Ethylmalonic acid inc (urine) Fumaric acid normal/inc (urine) Glutaric acid inc (urine) Ketone bodies (urine) normal/inc (urine) Malic acid normal/inc (urine) Malonic acid inc (urine) Malonyl-CoA decarboxylase dec (fibroblasts) Malonylcarnitine (C3DC) inc (urine) pCO2 normal/dec (blood) pH dec (blood) Sebacic acid normal/inc (urine) Suberic acid inc (urine) Succinic acid normal/inc (urine)
Symptoms	basal ganglia, changes, lesions, calcifications (MRI, CT) cardiomyopathy cardiomyopathy, hypertrophic constipation decreased muscle volume, atrophy or hypoplasia developmental delay diarrhea epilepsy hypoglycemia hypotonia ketosis, ketoacidosis lactic acidosis mental retardation metabolic acidosis MRI, brain, abnormalities [-] MRI, brain, abnormalities [-] onset, infancy Organic acids, urine pain, abdominal seizures short stature vomiting