Presentation
Saposins A–D are present in series in a common precursor protein, prosaposin. Thus, glycosphingolipids amounts depend on prosaposin cellular levels. We previously reported that prosaposin and saposin B bind coenzyme Q10 in human cells. [jstage.jst.go.jp]
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Abstract We describe a patient who presented shortly after birth with hyperkinetic behaviour, myoclonia, respiratory insufficiency and hepatosplenomegaly. Gaucher-like storage cells were found in bone marrow. [pubmed.ncbi.nlm.nih.gov]
[Article] Spiegel R, Bach G, Sury V, Mengistu G, Meidan B, Shalev S, Shneor Y, Mandel H, Zeigler M: A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans [go.drugbank.com]
Treatment
Management and treatment No specific treatment is available. Prognosis Encephalopathy due to prosaposin deficiency is a very severe metabolic disorder with a poor prognosis. [orpha.net]
Lysosomal diseases: Overview on current diagnosis and treatment. Genetics and Molecular Biology. 2019; doi:10.1590/1678-4685-GMB-2018-0159. Beck M. Treatment strategies for lysosomal storage disorders. [mayoclinic.org]
The cellular levels of coenzyme Q10 and prosaposin were recovered by treatment with 4-hydroxybenzoquinone, a substrate for coenzyme Q10 synthesis that counteracts the effect of 4-nitrobenzoate. [jstage.jst.go.jp]
Prognosis
Prognosis Encephalopathy due to prosaposin deficiency is a very severe metabolic disorder with a poor prognosis. The documents contained in this web site are presented for information purposes only. [orpha.net]
Etiology
Etiology The disease is caused by mutations in the PSAP gene (10q21) leading to absence or non-functionality of the prosaposin protein. [orpha.net]
Epidemiology
Summary Epidemiology It is very rare with less than 10 cases reported in the literature so far. [orpha.net]
Pathophysiology
0 0 0 0 0 1 Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 1 Pathology and Clinical Laboratory Medicine,King Fahad Medical City 1 0 0 0 0 0 1 Clinical Genomics Program, Stanford Medicine 0 1 0 0 0 0 1 Institute for Pathophysiology [clinvarminer.genetics.utah.edu]
Prevention
Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies. Molecular Genetics and Metabolism. 2017; doi:10.1016/j.ymgme.2017.08.006. Brown A. Allscripts EPSi. Mayo Clinic. July 26, 2019. [mayoclinic.org]
In addition, a few mutations in the PSAP gene have been identified that prevent the production of more than one of the saposin proteins. [medlineplus.gov]