PENTOSURIA; ESSENTIAL BENIGN PENTOSURIA

Question 1

What is  PENTOSURIA; ESSENTIAL BENIGN PENTOSURIA?

Accepted Answer

rare, common in Jews
autosomal recessive
mutation in the DCXR gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Pentosurie; Xylitol-Dehydrogenase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 260800

Question 4

Which enzymes are involved?

Accepted Answer

L-Xylulose reductase

Disease	PENTOSURIA; ESSENTIAL BENIGN PENTOSURIA
Synonym	PNTSU; PENTOSURIA; PENTOSURIA
OMIM	260800 OMIM = Online Mendelian Inheritance of Men
Orphanet	2843
Protein (UniProt)	L-Xylulose reductase
ExPASy	1.1.1.10
Gene locus	17q25.3
ICD	E74.8
Summary	rare, common in Jews autosomal recessive mutation in the DCXR gene
Laboratory findings	L-Xylulose inc (urine) D-Xylose inc (urine)
Symptoms	no clinical symptoms (probably) onset, infancy onset, neonatal