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Summary
METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY
SAPOSIN B DEFICIENCY
249900
OMIM = Online Medalian Inheritance of Men
10q22.1
very rare
autosomal recessive
mutation in the prosaposin gene (PSAP)
symptoms
ataxia
demyelinisation
developmental delay
developmental regression
dysarthria
dysphagia
hemiparesis/hemiplegia/hemiparetic cerebral palsy
hyperreflexia
hypertonia, spasticity
hyporeflexia
hypotonia
onset, adolescent
onset, childhood
onset, infancy
peripheral neuropathy
seizures
speech development, delayed, abnormal
white matter changes, abnormalities
laboratory finding
Sulfatide urine
Literature
Bockenhauer D,et al.Renal Phenotype in Lowe Syndrome: A Selective Proximal Tubular DysfunctionClin J Am Soc Nephrol351430-14362008
Morava EGalactose supplementation in phosphoglucomutase-1 deficiency review and outlook for a novel treatable CDGMol Genet Metab1124275-2792014
De Matteis MA,et al.The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2Nat Rev Nephrol138455-4702017