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Summary
HARTNUP DISEASE
HARTNUP DISORDER BEHAVIORAL DISTURBANCES, REVERSIBLE
234500
OMIM = Online Medalian Inheritance of Men
2116
5q15.33
  • nicotinamide
rare
autosomal recessive
mutations in the gene encoding the neutral amino acid transporter SLC6A19
symptoms
Amino acids, urine
ataxia
behavior, abnormal or bizarre, confusion
diarrhea
glossitis
mental retardation
no clinical signs or symptoms
pellagra
photophobia or photosensitive defect in light-exposed area
psychosis
short stature
laboratory finding
Tryptophan 0.0060.00decreasedplasma
Indole-3-acetic acid0.000.000.001.00increasedurinechildhood 6-12y
Alanine0.000.0023.0071.00increasedurinechildhood
Serine 32.00124.00increasedurine
Threonine 9.0062.00increasedurine
Valine 3.0021.00increasedurine
Leucine 3.0018.00increasedurine
Isoleucine 0.006.00increasedurine
Phenylalanine 6.0031.00increasedurine
Tyrosine 9.0048.00increasedurine
Tryptophan0.000.001.008.00increasedurinechildhood
Histidine 61.002787.00increasedurine
Asparagine0.000.000.006.00increasedurinechildhood
EEG abnormalities -
CT, brain, abnormalities -
Glutamine0.000.00 increasedurineno data
Literature
Calvani MReyes syndrome: the death of a syndrome? (Or death by a syndrome?)Recenti Prog Med910675-6802000
Van Kuilenburg ABet al.Detection of beta-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme levelJ Inherit Metab Dis247725-7322001
Kloor Det al.Studies of S-adenosylhomocysteine-hydrolase polymorphism in a Croatian populationJ Hum Genet51121-242006
Buist NRet al.S-Adenosylhomocysteine hydrolase deficiency in a 26-year-old manJ Inherit Metab Dis290538-5452006
Ohse Met al.Screening and diagnosis of beta-ureidopropionase deficiency by gas chromatographic/mass spectrometric analysis of urineJ Mass Spectrom379954-9622002
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Hlubocka Zet al.Cardiac involvement in Wilson diseaseJ Inherit Metab Dis254269-2772002
Moolenaar SHet al.beta-Ureidopropionase deficiency: a novel inborn error of metabolism discovered using NMR spectroscopy on urineMagn Reson Med4651014-10172001