combined saposin deficiency

info · Genetic

A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or compound heterozygous mutation in PSAP on 10q22.1.

Signs and symptoms

Hyperkinetic movements
Hepatomegaly
Splenomegaly
Myoclonus
Babinski sign
Hypoplasia of the corpus callosum
Abnormal glycosphingolipid metabolism
Feeding difficulties
Hypotonia
Fasciculations

Also known as: PSAPD; combined SAP deficiency; encephalopathy due to prosaposin deficiency