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Succinic acidemia

MedGen UID:
373921
Concept ID:
C1838243
Disease or Syndrome
Synonyms: Succinic Acidemia
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
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:
96907
Concept ID:
C0476273
Sign or Symptom
A pathological increase in the effort and frequency of breathing movements.
Lactic acidosis
MedGen UID:
1717
Concept ID:
C0001125
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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