Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiency.
Three boys and one girl suffering from inherited fructose-1,6-diphosphatase (FDPase) deficiency are reported. All four patients had less than 25% residual hepatic FDPase activity. While in two out of three patients the enzyme deficiency was also expressed in leucocytes, one patient had a normal enzyme activity. Remarkably, three patients had pronounced neonatal hyperbilirubinaemia requiring exchange transfusion.
Bührdel
P
P
Children's Hospital, Leipzig, German Democratic Republic.
Böhme
H J
HJ
Didt
L
L
D002675:Child, Preschool; D005260:Female; D015318:Fructose Metabolism, Inborn Errors / Q000097:blood / Q000150:complications / Q000175:diagnosis; D015319:Fructose-1,6-Diphosphatase Deficiency / Q000097:blood / Q000150:complications / Q000175:diagnosis; D005943:Gluconeogenesis / Q000502:physiology; D006801:Humans; D006933:Hyperbilirubinemia, Hereditary / Q000201:enzymology; D007003:Hypoglycemia / Q000209:etiology; D007223:Infant; D007231:Infant, Newborn; D007235:Infant, Premature, Diseases / Q000097:blood / Q000175:diagnosis / Q000201:enzymology; D007962:Leukocytes / Q000201:enzymology; D008099:Liver / Q000201:enzymology; D008297:Male