encephalopathy due to prosaposin deficiency

MeSH: C567125ORPHA: 139406

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with encephalopathy due to prosaposin deficiency, sourced from HPO and Orphanet clinical annotations.

Abnormality of eye movementHypotoniaDystoniaMyoclonusSplenomegalyBilateral tonic-clonic seizureRespiratory insufficiencyRecurrent respiratory infectionsHepatomegaly

Classification & Codes

MeSH Code

C567125

Orphanet Code

ORPHA:139406

encephalopathy due to prosaposin deficiency

MeSH	`C567125`
Orphanet	`ORPHA:139406`
Treatments	0 drug(s)
Symptoms on record	9 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO