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Summary
LESCH-NYHAN SYNDROME
HYPOXANTHIN GUANINE PHOSPHORIBOSYLTRANSFERASE LESCH-NYHAN SYNDROME
300322
OMIM = Online Medalian Inheritance of Men
510
Xq26.2-q26.3
  • allopurinol
rare (1:100000 males)
X-linked
mutations in HPRT1
complete: Lesch-Nyhan syndrome
partial: Kelley-Seegmiller syndrome
symptoms
anemia
behavior, self-mutilating or destructive
chorea or athetosis
dysarthria
dysphagia
dystonia
feeding difficulties, poor feeding
gout
growth retardation, poor growth
hematuria
hypotonia
infections (urinary tract)
mental retardation
nephrosis
onset, infancy
short stature
spastic diplegia/quadriplegia
urolithiasis, kidney stones
vomiting
laboratory finding
Uric acid10.0012.00100.00350.00mg/dlserum
Folate 4.1020.40decreasedserum
Hypoxanthin guanine phosphoribosyl transferase (HPRT)0.102.00 100.00% of normalfibroblasts
Uric acid 820.001026.00increasedurine
Literature
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Hirose Set al.Late-onset type II glutaric acid with massive pericardial effusion associated with severe fatty liverActa Paediatr890887-8882000
Ktena YP,et al.Propofol administration in patients with methylmalonic acidemia and intracellular cobalamin metabolism disorders: a review of theoretical concerns and clinical experiences in 28 patientsJ Inherit Metab Dis385847-8532015
Korner Cet al.Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferaseEMBO J1806816-68221999
Kim Set al.Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)J Clin Invest 1050191-1982000
Babovic-Vuksanovic Det al.Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndromeJ Pediatr1350775-7811999
Orlean PCongenital disorders of glycosylation caused by defects in mannose addition during N-linked oligosaccharide assemblyJ Clin Invest1050131-1322000
Mussap M,et al.The role of metabolomics in neonatal and pediatric laboratory medicineClin Chim Acta4260127-1382013
Nalysnyk L,et al.Gaucher disease epidemiology and natural history: a comprehensive review of the literatureHematology. 2017 Mar22(2):65-73.22265-732017
Imbach Tet al.Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type IeJ Clin Invest105023-2392000
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Manoli I,et al.A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemiasGenet Med184386-3952015
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991