Malonyl-coa decarboxylase deficiency

Preferred Label : Malonyl-coa decarboxylase deficiency;

Type : Phenotype, molecular basis known;

Description : Malonyl-CoA decarboxylase deficiency is an uncommon inherited metabolic disease. The characteristic phenotype is variable, but may include developmental delay in early childhood, seizures, hypotonia, diarrhea, vomiting, metabolic acidosis, hypoglycemia, ketosis, abnormal urinary compounds, lactic acidemia, and hypertrophic cardiomyopathy (Sweetman and Williams, 2001).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the malonyl-CoA decarboxylase gene (MLYCD, 606761.0001);

Laboratory abnormalities : Hypoglycemia; Ketosis; Abnormal urinary compounds; Lactic acidemia; Mitochondrial malonyl-CoA decarboxylase activity in fibroblasts is very low (as low as 4%);

Prefixed ID : #248360;

Details

Origin ID

248360;

UMLS CUI

C0342793;

CISMeF manual mappings
- Malonic aciduria [ORDO Disease]
Currated CISMeF NLP mapping
- Deficiency of malonyl-coenzyme A decarboxylase (disorder) [SNOMED CT concept]
- Malonic aciduria [ICD-11 More detail]
- Malonic aciduria [MeSH concept]
- Malonic aciduria (disorder) [SNOMED CT concept]
- malonic aciduria [Disease (Nov.)]
- malonic aciduria [MeSH Supplementary Concept]
Genes related to phenotype
- Malonyl-coa decarboxylase [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Autosomal recessive inheritance [HPO term]
- Chronic constipation [HPO term]
- Constipation [HPO term]
- Delayed CNS myelination [HPO term]
- Diarrhea [HPO term]
- Dilated cardiomyopathy [HPO term]
- Elevated urine suberic acid level [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypoglycemia [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Ketosis [HPO term]
- Lactic acidosis [HPO term]
- Left ventricular noncompaction cardiomyopathy [HPO term]
- Metabolic acidosis [HPO term]
- Methylmalonic aciduria [HPO term]
- Neonatal respiratory distress [HPO term]
- Pachygyria [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Malonic aciduria [ORDO Disease]
See also inter- (CISMeF)
- malonic aciduria [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of malonyl-coenzyme A decarboxylase (disorder) [SNOMED CT concept]
- Malonic aciduria [ORDO Disease]
- Malonic aciduria [MeSH concept]
- Malonic aciduria [ICD-11 More detail]
- Malonic aciduria (disorder) [SNOMED CT concept]
- malonic aciduria [MeSH Supplementary Concept]
- malonic aciduria [Disease (Nov.)]

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