LESCH-NYHAN SYNDROME (HGPRT, HPRT)

Question 1

What is  LESCH-NYHAN SYNDROME (HGPRT, HPRT)?

Accepted Answer

rare (1:100000 males)
X-linked
mutations in HPRT1
complete: Lesch-Nyhan syndrome
partial: Kelley-Seegmiller syndrome

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Lesch-Nyhan-Syndrom; Hypoxanthin-Guanin-Phosphoribosyltransferase-Mangel; HPRT

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 300322

Question 4

Which enzymes are involved?

Accepted Answer

Hypoxanthine-guanine phosphoribosyltransferase

Disease	LESCH-NYHAN SYNDROME (HGPRT, HPRT)
Synonym	HYPOXANTHIN GUANINE PHOSPHORIBOSYLTRANSFERASE; LESCH-NYHAN SYNDROME
OMIM	300322 OMIM = Online Mendelian Inheritance of Men
Orphanet	510
Protein (UniProt)	Hypoxanthine-guanine phosphoribosyltransferase
ExPASy	2.4.2.8
Gene locus	Xq26.2-q26.3
ICD	E79.1
Summary	rare (1:100000 males) X-linked mutations in HPRT1 complete: Lesch-Nyhan syndrome partial: Kelley-Seegmiller syndrome
Laboratory findings	Xanthine inc (urine) Oxypurinol (Allopurinol-metabolite) normal/inc (urine) Folate dec (serum) Hypoxanthin guanine phosphoribosyl transferase (HPRT) dec (fibroblasts) Hypoxanthine inc (urine) Hypoxanthine inc (plasma) Uric acid inc (serum) Uric acid inc (urine)
Symptoms	renal failure, acute anemia behavior, self-mutilating or destructive chorea or athetosis dysarthria dysphagia dystonia feeding difficulties, poor feeding gout growth retardation, poor growth hematuria hyperuricemia hypotonia infections (urinary tract) intellectual disability/intellectual developmental disorder mental retardation nephrosis onset, infancy renal failure, acute/chronic short stature spastic diplegia/quadriplegia/tetraplegia urolithiasis, nephrolithiasis, kidney stones vomiting