Glucose transporter protein type 1 deficiency Notes: De Vivo syndrome ; Glucose transport defect, blood-brain barrier ; Glut1 deficiency ; GLUT1 deficiency syndrome 1, infantile onset ; GLUT1 deficien ...
E75.6 Lipid storage disorder, unspecified
Lipid storage disorder, unspecified
E76.9 Glucosaminoglycan metabolism disorder, unspecified
Glucosaminoglycan metabolism disorder, unspecified
E79.9 Disorder of purine and pyrimidine metabolism, unspecified
Disorder of purine and pyrimidine metabolism, unspecified
E74.1 Disorders of fructose metabolism Notes: Fructokinase deficiency ; Fructosemia ; Fructose-1, 6-diphosphatase deficiency ;…
Disorders of fructose metabolism Notes: Fructokinase deficiency ; Fructosemia ; Fructose-1, 6-diphosphatase deficiency ; muscle phosphofructokinase deficiency (E74.09)