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Elevated circulating dodecanoylcarnitine concentration

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


Concentration of dodecanoylcarnitine in the blood circulation above the upper limit of normal. [from HPO]

Conditions with this feature

Mitochondrial complex IV deficiency, nuclear type 22
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Concept ID:
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.

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