KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY

Question 1

What is  KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY?

Accepted Answer

rare

autosomal recessive

mutation in the prosaposin gene (PSAP)

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 611722

Question 3

Which enzymes are involved?

Accepted Answer

Prosaposin

Disease	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY
Synonym	SAPOSIN A DEFICIENCY
OMIM	611722 OMIM = Online Mendelian Inheritance of Men
Orphanet	309252
Protein (UniProt)	Prosaposin
ExPASy	3.1.4.12
Gene locus	10q22.1
ICD
Summary	rare autosomal recessive mutation in the prosaposin gene (PSAP)
Laboratory findings	Protein inc (cerebrospinal fluid)
Symptoms	apnea cerebral atrophy decreased spontaneous movements early death hypertonia, spasticity hyporeflexia MRI, brain, abnormalities [-] onset, childhood onset, infancy respiratory insufficiency white matter changes, abnormalities