Visit Metagene.de!
Summary
BLUE DIAPER SYNDROME
BLUE DIAPER SYNDROME
211000
OMIM = Online Medalian Inheritance of Men
94086
very rare
autosomal recessive vs X-linked
PCSK1 mutation
bluish discoloration of the diaper
intestinal tryptophan transport defect?
symptoms
blue colored urine
diarrhea
eye movements, abnormal
fever
hypoglycemia
liver involvement (acute, chronic, hepatitis)
metabolic acidosis
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
Glucose normal-increasedblood
Literature
He Met al.A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiencyAm J Hum Genet81187-1032007
Hodson MEClinical studies of rhDNase in severely affected patients with cystic fibrosis -- an overwievRespiration Suppl62029-321995
Davey KMet al.Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like conditionJ Med Genet435385-3932006
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