Conditions / Genetic

classic galactosemia

info · Genetic

A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALT gene on chromosome 9p13.3.

Signs and symptoms

  • Bilateral tonic-clonic seizure
  • Generalized hypotonia
  • Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity
  • Jaundice
  • Delayed speech and language development
  • Vomiting
  • Feeding difficulties
  • Increased circulating galactitol concentration
  • Hypergalactosemia
  • Premature ovarian insufficiency

Medications that may treat it

lactulose

Also known as: GALT deficiency; galactose-1-phosphate uridyltransferase deficiency; galactosemia type 1