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 ...
E75.29 Other sphingolipidosis Notes: Farber’s syndrome ; Sulfatide lipidosis
Other sphingolipidosis Notes: Farber's syndrome ; Sulfatide lipidosis
E76.22 Sanfilippo mucopolysaccharidoses Notes: Mucopolysaccharidosis, type III (A) (B) (C) (D) ; Sanfilippo A syndrome ; Sanfil…
Sanfilippo mucopolysaccharidoses Notes: Mucopolysaccharidosis, type III (A) (B) (C) (D) ; Sanfilippo A syndrome ; Sanfilippo B syndrome ; Sanfilippo C syndrome ; Sanfilippo D syndrome
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 ...