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Succinic acidemia

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Succinic Acidemia
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
Concept ID:
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [HPO:curators]
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
OMIM®: 600335

Clinical features

Respiratory distress
MedGen UID:
Concept ID:
Sign or Symptom
A pathological increase in the effort and frequency of breathing movements.
Lactic acidosis
MedGen UID:
Concept ID:
Disease or Syndrome
Acidosis caused by accumulation of lactic acid more rapidly than it can be metabolized. It may occur spontaneously or in association with diseases such as DIABETES MELLITUS; LEUKEMIA; or LIVER FAILURE.

Recent clinical studies

Clinical prediction guides

Asano K, Miyamoto I, Matsushita T, Murakami Y, Minoura S, Wagatsuma T, Oshima M
Clin Chim Acta 1988 Apr 29;173(3):305-12. PMID: 3383430

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