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Elevated circulating dodecanoylcarnitine concentration

MedGen UID:
1788992
•Concept ID:
C5539597
•
Finding
Synonyms: Elevated circulating O-dodecanoylcarnitine concentration; Elevated plasma dodecanoylcarnitine, C12:0
 
HPO: HP:0033444

Definition

Concentration of dodecanoylcarnitine (C12:0) in the blood circulation above the upper limit of normal. [from HPO]

Conditions with this feature

Mitochondrial complex IV deficiency, nuclear type 22
MedGen UID:
1786100
•Concept ID:
C5543491
•
Disease or Syndrome
Mitochondrial complex IV deficiency nuclear type 22 (MC4DN22) is an autosomal recessive metabolic disorder characterized by neonatal hypertrophic cardiomyopathy, encephalopathy, and severe lactic acidosis with fatal outcome (Wintjes et al., 2021). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.
See: Condition Record
Mitochondrial complex IV deficiency, nuclear type 22

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