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GENATLAS PHENOTYPE
last update : 14-06-2013
Symbol RBFVD
Location 17p13.2
Name riboflavin deficiency
Corresponding gene SLC52A1
Main clinical features
  • after birth, poor suck, hypoglycemia, and metabolic acidosis
  • dicarboxylic aciduria and elevated plasma acylcarnitine levels
  • treatment with oral riboflavin resulted in complete resolution of the clinical and biochemical findings
  • Genetic determination autosomal dominant
    Function/system disorder metabolism/vitamin
    Type disease
    Remark(s)