Cytoscape Web
Click node...

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
1 OMIM reference -
1 associated gene
7 connected diseases
No signs/symptoms info
Disease Type of connection
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Synonym(s):
- MCEE deficiency
- Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency
- Methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency
- Methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
MCEE Q96PE7608419
No signs/symptoms info available.