Visit Metagene.de!
Summary
HISTIDINEMIA
235800
OMIM = Online Medalian Inheritance of Men
2157
12q23.1
  • low-histidine diet
rare
autosomal dominant
histidinaemia should be considered a benign condition, some authors were unable to show any correlation between the level of plasma histidine and particular clinical problems (Lam et al. 1996)
symptoms
Amino acids, plasma
mental retardation
no clinical signs or symptoms
Organic acids, urine
speech development, delayed, abnormal
laboratory finding
L-Histidine290.001420.0047.00135.00-Ámol/lserum
L-Histidine3.0027.0072.00342.00mmol/g creatinineurine
L-Histidine48.00142.000.0013.00-Ámol/lcerebrospinal fluid
Imidazolepyruvic acid 0.000.00increasedurine
Imidazolelactic acid0.005.00 mmol/g creatinineurineno data
Imidazoleacetic acid0.002.00 mmol/g creatinineurineno data
N-Acetylhistidine0.001.00 mmol/g creatinineurineno data
Histamine 0.000.00increasedurine
Histamine increasedplasma
N-Methylhistamine increasedurine
Ferric chloride reaction grayurine
Urocanic Acid decreasedurine, blood
Literature
Eren E,et al.Etiological evaluation of adolescents with primary amenorrheaIndian J Pediatr819861-8652014
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Hamajima Net al.Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase geneAm J Hum Genet633717-7261998
Wilson CJLee PJ, Leonard JVPlasma glutamine and ammonia concentrations in ornithine carbamoyltransferase deficiency and citrullinaemiaJ Inherit Metab Dis247691-6952001
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Yasuda Tet al.Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemiaHum Genet1076537-5452000
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991