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Summary
COMBINED SAPOSIN DEFICIENCY
PROSAPOSIN DEFICIENCY PSAPD
611721
OMIM = Online Medalian Inheritance of Men
309263
10q22.1
very rare
autosomal recessive
mutation in the PSAP gene
symptoms
abnormal movement
cerebellar atrophy or hypoplasia
early death
feeding difficulties, poor feeding
hepatomegaly (large liver)
hypotonia
myelination, incomplete, hypomyelination
myoclonus
onset, infancy
onset, neonatal
optic atrophy
psychomotor retardation
seizures
splenomegaly (large spleen)
white matter changes, abnormalities
laboratory finding
Literature
Tegtmeyer LC,et al.Uvula bifida als Leitsymptom einer neuen StoffwechselerkrankungMonatsschr Kinderheilkd16211975-9772014
Beamer LJ,et al.Mutations in hereditary phosphoglucomutase 1 deficiency map to key regions of enzyme structure and functionJ Inherit Metab Dis382243-2562015