Pompe disease Notes: Cardiac glycogenosis ; Type II glycogen storage disease
E74.4 Disorders of pyruvate metabolism and gluconeogenesis Notes: Deficiency of phosphoenolpyruvate carboxykinase ; Deficiency…
Disorders of pyruvate metabolism and gluconeogenesis Notes: Deficiency of phosphoenolpyruvate carboxykinase ; Deficiency of pyruvate carboxylase ; Deficiency of pyruvate dehydrogenase ; disorders of p ...
E75.19 Other gangliosidosis Notes: GM1 gangliosidosis ; GM3 gangliosidosis
Other gangliosidosis Notes: GM1 gangliosidosis ; GM3 gangliosidosis
E75.3 Sphingolipidosis, unspecified
Sphingolipidosis, unspecified
E76.29 Other mucopolysaccharidoses Notes: beta-Glucuronidase deficiency ; Maroteaux-Lamy (mild) (severe) syndrome ; Mucopolysac…
Other mucopolysaccharidoses Notes: beta-Glucuronidase deficiency ; Maroteaux-Lamy (mild) (severe) syndrome ; Mucopolysaccharidosis, types VI, VII
E78.4 Other hyperlipidemia Notes: Elevated Lp(a) ; Familial combined hyperlipidemia
Other hyperlipidemia Notes: Elevated Lp(a) ; Familial combined hyperlipidemia
E79.1 Lesch-Nyhan syndrome Notes: HGPRT deficiency
Lesch-Nyhan syndrome Notes: HGPRT deficiency
E83 Disorders of mineral metabolism Notes: Menkes’ (kinky hair) (steely hair) disease ; Bronzed diabetes ; Pigmentary cirrho…
Disorders of mineral metabolism Notes: Menkes' (kinky hair) (steely hair) disease ; Bronzed diabetes ; Pigmentary cirrhosis (of liver) ; Primary (hereditary) hemochromatosis ; Iron overload due to rep ...