Neuro Mixed sensory and cerebellar ataxia
Mental retardation
Lab Phosphohexose isomerase deficiency
Glucosephosphate isomerase deficiency
Normal osmotic fragility
Reduced leukocyte superoxide anion production
Reduced leukocyte bactericidal activity
Inheritance Autosomal recessive
Skin Jaundice
Muscle Muscle weakness
Misc Response to splenectomy
Stillbirth or early neonatal death ( ? recessive)
GI Pigment gallstones
Splenomegaly
Cholecystitis
Heme Nonspherocytic hemolytic anemia
Spontaneous hemolytic crises
