Homocystinuria-megaloblastic anemia, cble type

Preferred Label : Homocystinuria-megaloblastic anemia, cble type;

Symbol : HMAE;

CISMeF acronym : HMAE;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Vitamin b12-responsive homocystinuria, cble type; Methylcobalamin deficiency, cble type; Homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cble complementation type;

Description : Homocystinuria and megaloblastic anemia is an autosomal recessive inborn error of metabolism resulting from defects in the cobalamin (vitamin B12)-dependent pathway that converts homocysteine to methionine, which is catalyzed by methionine synthase (MTR; 156570). Clinical features are somewhat variable, but include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia, all of which respond to cobalamin supplementation. Methylmalonic aciduria is not present. Two complementation groups have been described based on fibroblast studies: CblE and CblG (250940) (Watkins and Rosenblatt, 1988). Cells from patients with CblE fail to incorporate methyltetrahydrofolate into methionine in whole cells, but cell extracts show normal methionine synthase activity in the presence of a reducing agent. Cells from patients with CblG have defects in the methionine synthase enzyme under both conditions (summary by Leclerc et al., 1996). CblG is caused by mutation in the MTR gene.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the methionine synthase reductase gene (MTRR, 602568.0001);

Laboratory abnormalities : Hypomethioninemia; Homocystinuria; Hyperhomocystinemia;

Prefixed ID : #236270;

Details

Origin ID

236270;

UMLS CUI

C1856057;

Automatic exact mappings (from CISMeF team)
- Homocystinuria without methylmalonic aciduria [ORDO Disease]
- Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, CblE complementation type [MeSH concept]
Currated CISMeF NLP mapping
- Homocystinuria-Megaloblastic Anemia, cblE Complementation Type [NCIt concept]
- Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, CblE complementation type [MeSH Supplementary Concept]
- Methylcobalamin deficiency type cbl E [ICD-11 More detail]
- Methylcobalamin deficiency type cblE [ORDO Disease]
Genes related to phenotype
- Methionine synthase reductase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- Cerebral atrophy [HPO term]
- Decreased methionine synthase activity [HPO term]
- Decreased methylcobalamin [HPO term]
- Failure to thrive [HPO term]
- Gait disturbance [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Homocystinuria [HPO term]
- Hyperhomocystinemia [HPO term]
- Hypomethioninemia [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, progressive [HPO term]
- Lethargy [HPO term]
- Megaloblastic anemia [HPO term]
- Nystagmus [HPO term]
- Seizure [HPO term]
Not associated HPO term(s)
- Methylmalonic acidemia [HPO term]
- Methylmalonic aciduria [HPO term]
ORDO concept(s)
- Homocystinuria without methylmalonic aciduria [ORDO Disease]
- Methylcobalamin deficiency type cblE [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Homocystinuria-Megaloblastic Anemia, cblE Complementation Type [NCIt concept]
- Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, CblE complementation type [MeSH Supplementary Concept]
- Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, CblE complementation type [MeSH concept]
- Methylcobalamin deficiency type cbl E [ICD-11 More detail]
- Methylcobalamin deficiency type cblE [ORDO Disease]

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