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 ...
E75.5 Other lipid storage disorders Notes: Cerebrotendinous cholesterosis [van Bogaert-Scherer-Epstein] ; Wolman’s disease
Other lipid storage disorders Notes: Cerebrotendinous cholesterosis ; Wolman's disease
E76.8 Other disorders of glucosaminoglycan metabolism
Other disorders of glucosaminoglycan metabolism
E78.49 Other hyperlipidemia Notes: Familial combined hyperlipidemia
Other hyperlipidemia Notes: Familial combined hyperlipidemia
E79.8 Other disorders of purine and pyrimidine metabolism Notes: Hereditary xanthinuria
Other disorders of purine and pyrimidine metabolism Notes: Hereditary xanthinuria
E83.00 Disorder of copper metabolism, unspecified
Disorder of copper 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)