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Summary
LESCH-NYHAN SYNDROME
HYPOXANTHIN GUANINE PHOSPHORIBOSYLTRANSFERASE LESCH-NYHAN SYNDROME
300322
OMIM = Online Medalian Inheritance of Men
510
Xq26-q27.2 ?
  • allopurinol
1:100000 X-linked complete: Lesch-Nyhan syndrome partial: Kelley-Seegmiller syndrome
symptoms
anemia
behavior, self-mutilating or destructive
chorea or athetosis
feeding difficulties, poor feeding
gout
growth retardation
hematuria
hypotonia
infections (urinary tract)
mental retardation
nephrosis
onset, infant
spastic diplegia/quadriplegia
urolithiasis
vomiting
laboratory finding
Uric acid10.0012.000.605.50mg/dlserum
Folate 4.1020.40decreasedserum
Hypoxanthin guanine phosphoribosyl transferase (HPRT)0.102.00 100.00% of normalfibroblasts
Uric acid 820.001026.00increasedurine
Literature
Hirose Set al.Late-onset type II glutaric acid with massive pericardial effusion associated with severe fatty liverActa Paediatr890887-8882000
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
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
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