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Summary
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
PSAP
610539
OMIM = Online Medalian Inheritance of Men
355
10q22.1
rare
mutation in the gene encoding saposin C (PSAP)
symptoms
altered consciousness, consciousness disturbance
anemia
cachexia
hepatomegaly (large liver)
onset, adolescent
onset, childhood
ophthalmoplegia
osteopenia
pyramidal signs
seizures
splenomegaly (large spleen)
thrombopenia, thrombocytopenia
laboratory finding
EEG abnormalities -
Thrombocytes, Platelets /-Álblood
Literature
Nedoszytko B,et al.High prevalence of carriers of variant c.1528G>C of HADHA gene causing long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) in the population of adult Kashubians from North PolandPLoS One1211e01873652017
De Biase I,et al.Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase DeficiencyJIMD Rep31063-712017
Nashabat M,Al-Khenaizan S, Alfadhel MMethionine adenosyltransferase I/III deficiency: beyond the central nervous system manifestationsTher Clin Risk Manag140225-2292018
De Biase I,et al.Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase DeficiencyJIMD Rep31063-712017
Hsieh WC,et al.Kidney-differentiated cells derived from Lowe Syndrome patients iPSCs show ciliogenesis defects and Six2 retention at the Golgi complexPLoS One132e01926352018
Heine RG,et al.Lactose intolerance and gastrointestinal cows milk allergy in infants and children - common misconceptions revisitedWorld Allergy Organ J101412017