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GENATLAS PHENOTYPE
last update : 12-04-2018
Symbol ATP5F1DD
Location 19p13.3
Name ATP5F1D deficiency
Corresponding gene ATP5F1D
Main clinical features
  • mitochondrial disorder that manifests in childhood with episodic decompensation featuring lactic acidosis and hyperammonemia accompanied by ketoacidosis or hypoglycemia
  • chronic manifestations include developmental delay, easy fatiguability, and 3-methylglutaconic aciduria
  • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    multisystem/generalized
    Type disease
    Remark(s)