What is COMBINED SAPOSIN DEFICIENCY?

very rare autosomal recessive mutation in the PSAP gene

COMBINED SAPOSIN DEFICIENCY

Disease	COMBINED SAPOSIN DEFICIENCY
Synonym	PROSAPOSIN DEFICIENCY; PSAPD
OMIM	611721 OMIM = Online Mendelian Inheritance of Men
Orphanet	309263
Protein (UniProt)	Prosaposin
Gene locus	10q22.1
ICD
Summary	very rare autosomal recessive mutation in the PSAP gene
Laboratory findings
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