Methylmalonic aciduria due to transcobalamin receptor defect
General Information (adopted from Orphanet):
| Synonyms, Signs: |
METHYLMALONIC ACIDEMIA, TCblR TYPE Methylmalonic acidemia, TCb1R type Methylmalonic acidemia, TCbIR type |
| Number of Symptoms | 2 |
| OrphanetNr: | 280183 |
| OMIM Id: |
613646
|
| ICD-10: |
E71.1 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Disorder of cobalamin metabolism and transport
-Rare genetic disease |
Symptom Information:
|
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(HPO:0012120) | Methylmalonic aciduria | 20 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Quadros et al. (2010) identified an infant with methylmalonic aciduria during newborn screening. The patient was born of unrelated parents of mixed European background. Newborn screening showed increased blood C3-acylcarnitine levels, and urinary analysis showed moderately elevated MMA. ... |
| Molecular genetics OMIM |
Quadros et al. (2010) identified a homozygous mutation in the CD320 gene (606475.0001) in an infant with methylmalonic aciduria due to a defect in the transcobalamin receptor. Biochemical studies on patient fibroblasts were consistent with a defect in ... |