What is ARTS SYNDROME; ARTS?

very rare x-linked recessive mutation in the PRPS1 gene part of the spectrum of PRPS1 -related disorders

Which enzymes are involved?

Ribose-phosphate pyrophosphokinase 1

Disease	ARTS SYNDROME; ARTS
OMIM	301835 OMIM = Online Mendelian Inheritance of Men
Orphanet	1187
Protein (UniProt)	Ribose-phosphate pyrophosphokinase 1
Gene locus	Xq22.3
ICD	E79.8
Summary	very rare x-linked recessive mutation in the PRPS1 gene part of the spectrum of PRPS1-related disorders
Laboratory findings	Hypoxanthine dec (urine) Ribose-phosphate pyrophosphokinase 1 (PRS-I) dec (erythrocytes) Uric acid normal/dec (serum)
Symptoms	areflexia ataxia dysphagia early death growth retardation, poor growth hearing defect, deafness hyperreflexia hypotonia infections (respiratory tract/system) intellectual disability/intellectual developmental disorder mental retardation motor retardation muscle weakness nystagmus onset, childhood onset, infancy onset, neonatal optic atrophy peripheral neuropathy psychomotor retardation seizures vision loss