Methylmalonic aciduria and homocystinuria, cblj type

Preferred Label : Methylmalonic aciduria and homocystinuria, cblj type;

Symbol : MAHCJ;

CISMeF acronym : MAHCJ;

Type : Phenotype, molecular basis known;

Description : Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous metabolic disorder of cobalamin (cbl; vitamin B12) metabolism, which is essential for hematologic and neurologic function. Biochemically, the defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT; 609058) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR; 156570). CblJ is phenotypically and biochemically similar to cblF (277380) (summary by Coelho et al., 2012).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ATP-binding cassette, subfamily D, member 4 gene (ABCD4, 603214.0001);

Laboratory abnormalities : Methylmalonic acidemia; Methylmalonic aciduria; Homocystinemia; Homocystinuria; Decreased adenosylcobalamin (AdoCbl); Decreased activity of methylmalonyl-CoA mutase (MUT, 609058); Decreased activity of methionine synthase (MTR, 156570); Decreased methylcobalamin (MeCbl); Increased free cyanocobalamin in fibroblasts;

Prefixed ID : #614857;

Details

Origin ID

614857;

UMLS CUI

C3553915;

Automatic exact mappings (from CISMeF team)
- Methylmalonic acidemia with homocystinuria type cblF [ORDO Disease]
Currated CISMeF NLP mapping
- Methylmalonic Aciduria and Homocystinuria, cblJ Type [NCIt concept]
- Methylmalonic acidemia with homocystinuria, type cblJ [ORDO Disease]
Genes related to phenotype
- Atp-binding cassette, subfamily D, member 4 [OMIM gene]
HPO term(s)
- Abnormal posturing [HPO term]
- Anemia [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Coarctation of aorta [HPO term]
- Congenital onset [HPO term]
- Cryptorchidism [HPO term]
- Decreased adenosylcobalamin [HPO term]
- Decreased methionine synthase activity [HPO term]
- Decreased methylcobalamin [HPO term]
- Feeding difficulties [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Homocystinuria [HPO term]
- Hyperhomocystinemia [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Inguinal hernia [HPO term]
- Lethargy [HPO term]
- Methylmalonic acidemia [HPO term]
- Methylmalonic aciduria [HPO term]
- Micrognathia [HPO term]
- Neutropenia [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Tachypnea [HPO term]
- Thrombocytopenia [HPO term]
- Wide intermamillary distance [HPO term]
ORDO concept(s)
- Methylmalonic acidemia with homocystinuria [ORDO Disease]
- Methylmalonic acidemia with homocystinuria, type cblJ [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Methylmalonic Aciduria and Homocystinuria, cblJ Type [NCIt concept]

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