inborn disorder of energy metabolism

Findings

No curated finding names inborn disorder of energy metabolism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• inborn errors of metabolism

Narrower terms (6)

• cerebral creatine deficiency syndrome
• disorder of fatty acid and ketone body metabolism
• disorder of glycogen metabolism
• inborn mitochondrial metabolism disorder
• pyruvate metabolism disorder
• tricarboxylic acid cycle disorder

Resolves to: inborn disorder of energy metabolism

Also called

inborn error of generation of precursor metabolites and energyinborn generation of precursor metabolites and energy disorderrare inborn error of generation of precursor metabolites and energy