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last update : 31-05-2014
Symbol HFND
Location 17p13-p12
Name hepatic failure and neurologic disorder
Corresponding gene SCO1
Main clinical features
  • early onset, neonatal ketoacidotic coma with hepatic failure
  • fatal infantile encephalopathy and lactic acidosis
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/lipoprotein-lipid
    Type disease
    Gene product
    Name SCO (cytochrome oxidase deficient, yeast) homolog 1
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function P174L
    Genotype/Phenotype correlations P174L, mutation altering the structure around the metal-binding site, affects both copper(I) binding and redox properties of the protein, thus impairing the efficiency of copper transfer to cytochrome C oxidase, associated with a fatal neonatal hepatopathy when the second allele also is nonfunctional