... criteria, click here . MedlinePlus Niemann-Pick disease National Niemann-Pick Disease Foundation (NNPDF) Phone: 877-287-3672 Email: nnpdf@ ... jewishgenetics@juf.org www.juf.org/cjg International Niemann–Pick Disease Alliance (INPDA) Phone: 44 (0)191 4150693 Email: ...

... 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 ...

... deficiency: Ketoacidosis Extremely elevated glycerol GK Glycerol kinase Niemann-Pick disease type B 4 (See Acid Sphingomyelinase Deficiency .) AR Growth restriction Hepatomegaly Hyperlipidemia In Niemann-Pick disease type B: Lack of fasting hypoglycemia Significant splenomegaly ...

... nephropathy Significant short stature SMPD1 Chronic visceral ASMD (Niemann-Pick disease type B) 2 (See ASM Deficiency .) AR Hepatomegaly ... of gluconeogenesis; others should also be considered. 2. Niemann-Pick disease type B and Gaucher disease are examples of ...

... chronic cholestasis, & end-stage liver disease. NPC1 NPC2 Niemann-Pick disease type C AR Manifestations in perinatal period & infancy ... control. This may require years of intensive therapy. Prevention of Primary Manifestations See Table 8 . Prevention of ...

... 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 ...

... Gaucher disease, cystine storage disease, Tay-Sachs disease, Niemann-Pick disease); and other (Kawasaki disease, anorexia nervosa, cancer, previous ...

... Gaucher disease, cystine storage disease, Tay-Sachs disease, Niemann-Pick disease); and other (Kawasaki disease, anorexia nervosa, cancer, previous ...

... w/survival into 3rd-4th decade. NPC1 NPC2 Niemann-Pick disease type C AR Principal manifestations are age dependent. ... against occurring adverse effects for each affected individual. Prevention of Primary Manifestations Chelation therapy and iron supplementation ...