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Summary
KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY
SAPOSIN A DEFICIENCY
611722
OMIM = Online Medalian Inheritance of Men
309252
10q22.1
rare
autosomal recessive
mutation in the prosaposin gene (PSAP)
symptoms
apnea
cerebral atrophy
decreased spontaneous movements
early death
hypertonia, spasticity
hyporeflexia
onset, childhood
onset, infancy
respiratory insufficiency
white matter changes, abnormalities
laboratory finding
Protein mg/dlcerebrospinal fluid
MRI, brain, abnormalities -
Literature
Prosseda PP,et al.Loss of OCRL increases ciliary PI(4,5)P2 in Lowe oculocerebrorenal syndromeJ Cell Sci130203447-34542017
Abdalla E,et al.Lowe syndrome: A particularly severe phenotype without clinical kidney involvementAm J Med Genet A1762460-4642018