... mutation of LIPA. Differential Diagnosis Acid sphingomyelinase deficiency (Niemann-Pick disease, types A and B). Overlapping clinical features of lysosomal acid lipase (LAL) deficiency and Niemann-Pick disease types A and B are hepatosplenomegaly, which is ...

... help distinguish between them. Hepatosplenomegaly is observed in Niemann-Pick disease types A and B (see Acid Sphingomyelinase Deficiency ), Niemann-Pick disease type C , Wolman disease (lysosomal lipase deficiency), the ...

... disorders, including: infantile Gaucher disease , GM1 gangliosidosis , galactosialidosis, Niemann-Pick disease type A , and Sandhoff disease. Neurologic regression is ...

... deficiency: Ketoacidosis Extremely elevated glycerol GK Glycerol kinase Niemann-Pick disease type B 8 (see Acid Sphingomyelinase Deficiency ) AR Growth restriction Hepatomegaly Hyperlipidemia In Niemann-Pick disease type B: Lack of fasting hypoglycemia Significant splenomegaly ...

... al 2010 ]. Metabolic syndromes including lysosomal storage diseases, Niemann-Pick disease type C , GM1 gangliosidosis , Lesch-Nyhan syndrome , homocystinuria , ... and pallidal deep brain stimulation may be considered. Prevention of Secondary Complications Consider influenza vaccine, prophylactic antibiotics, ...

... intolerance Fructose 1, 6 biphosphatase deficiency (OMIM 229700 ) Niemann-Pick disease type C Wilson disease Neonatal hemochromatosis (OMIM 231100 ) ... the plasma and urine [ Bartlett et al 2013 ]. Prevention of Primary Manifestations Treatment with nitisinone (Orfadin ® ) should ...

... Omar Abdul-Rahman. Initial Posting: October 15, 2015. Niemann-Pick Disease Type C Marc Patterson. Initial Posting: January 26, ... 2009; 7(3):80-129. Review Medical Error Prevention [StatPearls. 2020] Review Medical Error Prevention Rodziewicz TL, ...