PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (PRPPS)

Question 1

What is  PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (PRPPS)?

Accepted Answer

rare
X-linked recessive
mutations in the X-chromosomal gene PRPS1

- infantile or early-childhood onset (severe phenotype)

- late-juvenile or early-adult onset (milder phenotype)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

PRPP [Phosphoribosylpyrophosphat]-Synthetase-Überaktivität

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 300661

Question 4

Which enzymes are involved?

Accepted Answer

Ribose-phosphate diphosphokinase (Phosphoribosyl pyrophosphate synthetase)

Disease	PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (PRPPS)
Synonym	PRPS1 SUPERACTIVITY
OMIM	300661 OMIM = Online Mendelian Inheritance of Men
Orphanet	3222
Protein (UniProt)	Ribose-phosphate diphosphokinase (Phosphoribosyl pyrophosphate synthetase)
ExPASy	2.7.6.1
Gene locus	Xq22.3
ICD	E79.8
Summary	rare X-linked recessive mutations in the X-chromosomal gene PRPS1 - infantile or early-childhood onset (severe phenotype) - late-juvenile or early-adult onset (milder phenotype)
Laboratory findings	Hypoxanthine inc (urine) Oxypurinol (Allopurinol-metabolite) normal/inc (urine) Uric acid normal/inc (plasma) Uric acid inc (urine)
Symptoms	ataxia developmental delay dysmorphism gout hearing defect, deafness hyperuricemia hypotonia infections (severe or recurrent) intellectual disability/intellectual developmental disorder mental retardation motor retardation onset, adolescent onset, childhood onset, infancy optic atrophy renal failure, acute/chronic urolithiasis, nephrolithiasis, kidney stones