Mucopolysaccharidosis, type I
E77.0 Defects in post-translational modification of lysosomal enzymes Notes: Mucolipidosis II [I-cell disease] ; Mucolipidosis…
Defects in post-translational modification of lysosomal enzymes Notes: Mucolipidosis II ; Mucolipidosis III
E78.7 Disorders of bile acid and cholesterol metabolism Notes: Niemann-Pick disease type C (E75.242)
Disorders of bile acid and cholesterol metabolism Notes: Niemann-Pick disease type C (E75.242)
E80.0 Hereditary erythropoietic porphyria Notes: Congenital erythropoietic porphyria ; Erythropoietic protoporphyria
Hereditary erythropoietic porphyria Notes: Congenital erythropoietic porphyria ; Erythropoietic protoporphyria
E70.33 Albinism with hematologic abnormality
Albinism with hematologic abnormality
E71.0 Maple-syrup-urine disease
Maple-syrup-urine disease
E71.311 Medium chain acyl CoA dehydrogenase deficiency Notes: MCAD
Medium chain acyl CoA dehydrogenase deficiency Notes: MCAD
E71.50 Peroxisomal disorder, unspecified
Peroxisomal disorder, unspecified

