Metabolic Diseases

  • Enid Gilbert-Barness
  • Diane E. Spicer
  • Thora S. Steffensen
Chapter

Abstract

Galactosemia is an autosomal-recessive disorder with a frequency of 1 in 60,000 live births. The classic form of galactosemia is attributable to a deficiency of galactose-1-phosphate uridyltransferase, which results in the accumulation of galactose, galactose-1-phosphate, and galactitol in the tissues. Less frequently, galactosemia may be attributable to galactokinase or galactose epimerase deficiency. If the newborn infant is fed lactose, vomiting, diarrhea, hyperbilirubinemia, hepatosplenomegaly, renal tubular dysfunction, liver failure, and cataracts develop. Galactose is present in the blood of affected newborns. Diagnosis is confirmed by the assay of red blood cell galactose-1-phosphate uridyltransferase, which is reliable unless the infant has received red blood cell transfusions. The pathologic changes are pronounced steatosis of hepatocytes, with a progressive pseudoacinar change of hepatic architecture, bile duct proliferation, cholestasis, focal necrosis, and finally cirrhosis. Other features are pancreatic islet cell hyperplasia and vacuolization of renal tubular epithelial cells. At autopsy the brain is edematous, and gliosis and neuronal necrosis have been attributed to hypoxic-ischemic damage. The pathologic changes of hereditary fructose intolerance and tyrosinemia are similar.

Keywords

Cholesterol Homocysteine Myopathy Ceramide Dystonia 

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Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  • Enid Gilbert-Barness
    • 1
  • Diane E. Spicer
    • 2
  • Thora S. Steffensen
    • 3
  1. 1.Laboratory Medicine, Pediatrics and Obstetrics and Gynecology Tampa General Hospital Morsani College of MedicineUniversity of South FloridaTampaUSA
  2. 2.Department of Pediatrics-CardiologyUniversity of FloridaValricoUSA
  3. 3.Department of PathologyTampa General HospitalTampaUSA

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