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Summary
BLUE DIAPER SYNDROME
BLUE DIAPER SYNDROME
211000
OMIM = Online Medalian Inheritance of Men
94086
rare
autosomal recessive vs X-linked
bluish discoloration of the diaper
intestinal tryptophan transport defect?
symptoms
blue colored urine
eye movements, abnormal
microcornea
nephrocalcinosis
laboratory finding
Indican increasedurine
Indole-3-acetic acid0.000.000.001.00increasedurinechildhood 6-12y
5-Hydroxyindolacetic acid 11.50increasedurine
Calcium 2.102.65increasedserum
Literature
Hodson MEClinical studies of rhDNase in severely affected patients with cystic fibrosis -- an overwievRespiration Suppl62029-321995
Thomas GHBeaudet ALDisorders of glycoprotein degradation and structure: alpha-mannosidosis, beta-mannosidosis, fucosidosis, sialidosis, aspartylglucosminuria and carbohydrate- deficient glycoprotein syndromeThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.202529-25611995
Sheffer RNet al.Behrs syndrome and 3-methylglutaconic aciduriaAm J Ophthalmol1144494-4971992
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Konstan MWet al.Effect of high-dose ibuprofen in patients with cystic fibrosisN Engl J Med33213848-8541995
Iacobazzi Vet al.Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutationAm J Med Genet1262150-1552004
Andersen GORitland SLife threatening intoxication with sodium valproateJ Toxicol Clin Toxicol333279-2841995