METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY

Question 1

What is  METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY?

Accepted Answer

very rare

autosomal recessive

mutation in the prosaposin gene (PSAP)

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 249900

Question 3

Which enzymes are involved?

Accepted Answer

Prosaposin

Disease	METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY
Synonym	SAPOSIN B DEFICIENCY
OMIM	249900 OMIM = Online Mendelian Inheritance of Men
Protein (UniProt)	Prosaposin
Gene locus	10q22.1
ICD
Summary	very rare autosomal recessive mutation in the prosaposin gene (PSAP)
Laboratory findings	15-Hydroxyeicosatetraenoic acid inc (urine) Sulfatide inc (urine)
Symptoms	ataxia demyelinisation developmental delay developmental regression dysarthria dysphagia hemiparesis/hemiplegia/hemiparetic cerebral palsy hyperreflexia hypertonia, spasticity hyporeflexia hypotonia Nerve conductive velocity, slow onset, adolescent onset, childhood onset, infancy paresis peripheral neuropathy seizures speech development, delayed, abnormal white matter changes, abnormalities