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Summary
ARTS SYNDROME ARTS
301835
OMIM = Online Medalian Inheritance of Men
1187
rare
x-linked recessive
mutation in the PRPS1 gene
part of the spectrum of PRPS1-related disorders

symptoms
ataxia
early death
hearing defect, deafness
hypotonia
infections (respiratory tract/system)
intellectual disability/intellectual developmental disorder (ID/ IDD)
motor retardation
onset, childhood
onset, infancy
onset, neonatal
optic atrophy
peripheral neuropathy
laboratory finding
Uric acid130.00160.00 +€mol/lserum
Hypoxanthine0.002.00 mmol/mol creatinineurine
ribose-phosphate pyrophosphokinase 1 (PRS-I) activityerythrocytes
Literature
Stanley CAParsing ketotic hypoglycaemiaArch Dis Child916460-4612006
Marcus C,et al.Insufficient ketone body use is the cause of ketotic hypoglycemia in one of a pair of homozygotic twinsJ Clin Endocrinol Metab92114080-40842007
Yokota YKetotic hypoglycemia in childhoodNihon Rinsho Suppl30186-1892006