SUCCINIC ACIDEMIA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 600335
ICD-10:
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: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0003128) Lactic acidosis 116 / 7739
2
(HPO:0002098) Respiratory distress 75 / 7739
3
(OMIM) Organic acidemia 2 / 7739
4
(OMIM) Succinicacidemia 1 / 7739
5
(OMIM) Low NADH-cytochrome c reductase activity 1 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
(OMIM) Serum succinic acid levels greatly increased 1 / 7739
8
(OMIM) Low NADH-ferricyanide reductase activity 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Asano et al. (1988) reported 2 female sibs with succinic acidemia, a hitherto unreported organic acidemia. Succinic acidemia, lactic acidosis, and respiratory distress were present in 1 sib, who died 37 days after birth. The second sib was ...