Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: Methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency
Methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency
METHYLMALONIC ACIDURIA III, FORMERLY METHYLMALONYL-CoA EPIMERASE DEFICIENCY WITH SEPIAPTERIN REDUCTASE DEFICIENCY, INCLUDED
METHYLMALONYL-CoA RACEMASE DEFICIENCY
Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency
MCEE deficiency
Number of Symptoms 13
OrphanetNr: 308425
OMIM Id: 251120
ICD-10: E71.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Methylmalonic acidemia without homocystinuria
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002919) Ketonuria 18 / 7739
2
 (HPO:0012120) Methylmalonic aciduria 20 / 7739
3
 (HPO:0002020) Gastroesophageal reflux 101 / 7739
4
 (HPO:0001508) Failure to thrive 454 / 7739
5
 (HPO:0001944) Dehydration 59 / 7739
6
 (HPO:0002912) Methylmalonic acidemia 14 / 7739
7
 (HPO:0001942) Metabolic acidosis 81 / 7739
8
 (OMIM) Normal B12 1 / 7739
9
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
 (OMIM) Self-regulated protein restriction 1 / 7739
11
 (OMIM) Methylmalonic aciduria, mild 2 / 7739
12
 (OMIM) Normal plasma total homocysteine 1 / 7739
13
 (OMIM) Elevated plasma propionylcarnitine 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Scriver (1974) studied cases. Methylmalonic aciduria III, previously thought to be distinct from the other forms and to be due to deficiency of methylmalonyl CoA racemase, is shown not to be distinctive by complementation studies. Montgomery et al. ...
Molecular genetics OMIM In the patient with methylmalonic aciduria and retarded development with spasticity presented by them, Bikker et al. (2006) found a homozygous mutation in the methylmalonyl-CoA epimerase gene (MCEE; 608419.0001). A mutation in the gene encoding sepiapterin reductase (SPR) ...