Methylmalonic aciduria, cblb type

Preferred Label : Methylmalonic aciduria, cblb type;

Symbol : MACB;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb type; Methylmalonic acidemia, cblb type;

Description : Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Different forms of isolated methylmalonic aciduria have been classified according to complementation groups of cells in vitro. Patients with defects in the synthesis of AdoCbl are usually responsive to vitamin B12 therapy and are classified as 'cbl' type: these include cblB and cblA (251100). The cblA type is caused by mutation in the MMAA gene (607481). The 'mut' type (251000) is caused by mutation in the MUT gene; in general, the mut form of MMA is unresponsive to vitamin B12 therapy. Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (277400), cblD (277410), and cblF (277380).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the MMAB gene (MMAB, 607568.0001);

Laboratory abnormalities : Methylmalonic acidemia; Methylmalonic aciduria; Ketonuria; Hyperglycinemia; Hyperammonemia; Decreased methylmalonyl-CoA mutase (MUT, 609058) activity; Normal serum cobalamin (vitamin B12); Decreased adenosylcobalamin (AdoCbl);

Prefixed ID : #251110;

Details

Origin ID

251110;

UMLS CUI

C1855102;

Automatic exact mappings (from CISMeF team)
- Vitamin B12-responsive methylmalonic acidemia [ORDO Disease]
Currated CISMeF NLP mapping
- Methylmalonic Aciduria, cblB Type [NCIt concept]
- Methylmalonic aciduria cblB type [MeSH concept]
- Vitamin B12 responsive methylmalonic aciduria type cbl B [ICD-11 More detail]
- Vitamin B12-responsive methylmalonic acidemia type cblB [ORDO Disease]
- methylmalonic acidemia cblB type [DO Concept]
- methylmalonic aciduria cblB type [MeSH Supplementary Concept]
DO Cross reference
- methylmalonic acidemia cblB type [DO Concept]
Genes related to phenotype
- Metabolism of cobalamin associated b [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Coma [HPO term]
- Decreased adenosylcobalamin [HPO term]
- Decreased methylmalonyl-CoA mutase activity [HPO term]
- Dehydration [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Hyperammonemia [HPO term]
- Hyperglycinemia [HPO term]
- Hypotonia [HPO term]
- Ketonuria [HPO term]
- Ketosis [HPO term]
- Lethargy [HPO term]
- Metabolic acidosis [HPO term]
- Methylmalonic acidemia [HPO term]
- Methylmalonic aciduria [HPO term]
- Neonatal onset [HPO term]
- Neutropenia [HPO term]
- Pancytopenia [HPO term]
- Respiratory distress [HPO term]
- Thrombocytopenia [HPO term]
- Vomiting [HPO term]
Not associated HPO term(s)
- Abnormal vitamin B12 level [HPO term]
ORDO concept(s)
- Vitamin B12-responsive methylmalonic acidemia [ORDO Disease]
- Vitamin B12-responsive methylmalonic acidemia type cblB [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Methylmalonic Aciduria, cblB Type [NCIt concept]
- Methylmalonic aciduria cblB type [MeSH concept]
- Vitamin B12 responsive methylmalonic aciduria type cbl B [ICD-11 More detail]
- Vitamin B12-responsive methylmalonic acidemia type cblB [ORDO Disease]
- methylmalonic acidemia cblB type [DO Concept]
- methylmalonic aciduria cblB type [MeSH Supplementary Concept]

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