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Summary
CYSTINURIA
220100
OMIM = Online Medalian Inheritance of Men
214
2p21 (SLC3A1), 19q13.11 (SLC7A9)
  • 2-mercaptopropionylgycine
  • captopril
  • D-penicillamine
  • extracorporeal shock-wave lithotripsy
  • high fluid intake
  • potassium citrate
  • sodium bicarbonate
  • sodium citrate
  • tiopronin
rare
autosomal dominant
autosomal recessive
3 allelic types (I, II, III)
symptoms
Amino acids, urine
hematuria
infections (urinary tract)
onset, adolescent
onset, adulthood
pain, abdominal
renal failure, acute/chronic
sulfurous odor
unusual odor / odour
urolithiasis, kidney stones
X-ray, abnormalities
laboratory finding
L-Cystine150.001000.0012.0048.00mmol/mol creatinineurine
L-Lysine150.002000.0010.0069.00mmol/mol creatinineurine
Arginine200.00800.000.0010.00mmol/mol creatinineurineinfancy
Ornithine200.00500.000.0013.00mmol/mol creatinineurine
Cysteinyl leukotrienes (LTE4) 230.00 mg/24hurine
ultrasound, abdominal, abnormal -
Literature
Keng WTet al.Autistic spectrum disorder: atypical presentation of non-ketotic hyperglycinaemia and maple sirup urine disease?J Inher Met Dis Suppl 1 (SSIEM 42st Annual Symposium Paris)280522005
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991
Sass JOet al.Aminoacylase I deficiency: a new inborn error of metabolism?J Inher Met Dis Suppl 1 (SSIEM 42st Annual symposium Paris)280502005
Keng WTet al.Autistic spectrum disorder: atypical presentation of non-ketotic hyperglycinaemia and maple sirup urine disease?J Inher Met Dis Suppl 1 (SSIEM 42st Annual Symposium Paris)280522005
De Praeter CMet al.A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiencyAm J Hum Genet6661744-17562000
Lubke Tet al.Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiencyNat Genet28173-762001
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991
Burwinkel Bet al.Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VIAm J Hum Genet624785-7911998
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991
Robinson BHLactic acidemia (disorders of pyruvate carboxylase, pyruvate dehydrogenase)The metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101479-14991995
Tang NLet al.A novel mutation (G233D) in the glycogen phosphorylase gene in a patient with hepatic glycogen storage disease and residual enzyme activityMol Genet Metab792142-1452003
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
van Coster Ret al.An infant with large amounts of several N-acetylated amno acids in the urine has aminoacylase I deficiencyJ Inher Met Dis Suppl 1 (SSIEM 42st Annual symposium Paris)280502005