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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
aminoaciduria
ataxia
behavior, abnormal or bizarre, confusion
diarrhea
glossitis
mental retardation
no consistent clinical signs or symptoms
onset, childhood
onset, infancy
pellagra
photophobia or photosensitive defect in light-exposed area
psychosis
short stature
laboratory finding
L-Tryptophan 15.0072.00decreasedplasma
Indole-3-acetic acid10.00100.000.001.00mmol/mol creatinineurine
Alanine400.001400.0033.00110.00mmol/mol creatinineurine
L-Serine250.001500.0032.00124.00mmol/mol creatinineurine
L-Threonine150.001500.009.0062.00mmol/mol creatinineurine
Valine40.00500.003.0021.00mmol/mol creatinineurine
Leucine50.00200.003.0018.00mmol/mol creatinineurine
L-Isoleucine50.00500.000.005.00mmol/mol creatinineurine
Phenylalanine15.0012.006.0031.00mmol/mol creatinineurine
L-Tyrosine50.00500.009.0048.00mmol/mol creatinineurine
L-Tryptophan80.00240.001.008.00mmol/mol creatinineurine
L-Histidine300.001200.0061.00287.00mmol/mol creatinineurine
Asparagine100.00300.000.0032.00mmol/mol creatinineurinechildhood
EEG abnormalities -
CT, brain, abnormalities -
Glutamine300.003000.00 mmol/mol creatinineurine
Glutamic acid15.00200.00 mmol/mol creatinineurine
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