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Stress/infection-induced lactic acidosis

MedGen UID:
870820
Concept ID:
C4025278
Disease or Syndrome
Synonym: Metabolic crises during febrile infections
 
HPO: HP:0004897

Definition

A form of lactic acidemia that occurs in relation to stress or infection. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVStress/infection-induced lactic acidosis

Conditions with this feature

Mitochondrial complex 3 deficiency, nuclear type 10
MedGen UID:
1719382
Concept ID:
C5394051
Disease or Syndrome
Mitochondrial complex II deficiency, nuclear type 1
MedGen UID:
1814582
Concept ID:
C5700310
Disease or Syndrome
Mitochondrial complex II deficiency is an autosomal recessive multisystemic metabolic disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, and muscle with onset in infancy, whereas others have only isolated cardiac or muscle involvement. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by Jain-Ghai et al., 2013). Complex II, also known as succinate dehydrogenase, is part of the mitochondrial respiratory chain. Genetic Heterogeneity of Mitochondrial Complex II Deficiency See MC2DN2 (619166), caused by mutation in the SDHAF1 gene (612848) on chromosome 19q13; MC2DN3 (619167), caused by mutation in the SDHD gene (602690) on chromosome 11q23; and MC2DN4 (619224), caused by mutation in the SDHB gene (185470) on chromosome 1p36. Fullerton et al. (2020) reviewed the genetic basis of isolated mitochondrial complex II deficiency.

Recent clinical studies

Etiology

Abou Haidar L, Harris RC, Pachnis P, Chen H, Gotway GK, Ni M, DeBerardinis RJ
Cold Spring Harb Mol Case Stud 2023 Dec;9(4) Epub 2024 Jan 10 doi: 10.1101/mcs.a006295. PMID: 37709555Free PMC Article

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