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Summary
RENAL TUBULAR ACIDOSIS, DISTAL, RTA TYPE I
RENAL TUBULAR ACIDOSIS I (dRTA)
179800
OMIM = Online Medalian Inheritance of Men
18
17q21.31
  • sodium bicarbonate
not rare
autosomal dominant
mutation in the SLC4A1 gene
symptoms
bone fractures
constipation
dehydration
failure to thrive
growth retardation
infections (urinary tract)
metabolic acidosis
muscle weakness
nephrocalcinosis
onset, adulthood
onset, childhood
onset, infancy
osteomalacia
vomiting
laboratory finding
Potassium2.503.003.505.50mmol/lserum
pH6.007.00 no uniturineno data
Chloride 98.00106.00increasedserum
pH7.207.307.357.45no unitblood
Calcium 1.303.80increasedurine
Bicarbonate decreasedserum
Calcium decreasedserum
Potassium increasedurine
Literature
Clayton PTet al.Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometryArch Dis Child792109-1151998
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Clayton BEJenkins P, Round JMPaediatric chemical pathology - clinical tests and reference rangesBlackwell, Oxford001980
Thomason MJet al.A systematic review of evidence for the appropriateness of neonatal screening programmes for inborn errors of metabolismJ Public Health Med203331-3431998
Yeung CYHypoglycemia in neonatal sepsisJ Pediatr770812-8171970
Macaya A,et al.Molybdenum cofactor deficiency presenting as neonatal hyperekplexia: a clinical, biochemical and genetic studyNeuropediatrics366389-3942005
Tsikas Det al.Specific and rapid quantification of 8-iso-prostaglandin F2alpha in urine of healthy humans and patients with Zellweger syndrome by gas chromatography-tandem mass spectrometryJ Chromatogr B Biomed Sci Appl71607-171998
Chace DHet al.Use of phenylalanine-to-tyrosine ratio determined by tandem mass spectrometry to improve newborn screening for phenylketonuria of early discharge specimens collected in the first 24 hoursClin Chem4402405-24091998
Thomason MJet al.A systematic review of evidence for the appropriateness of neonatal screening programmes for inborn errors of metabolismJ Public Health Med203331-3431998
Reiss J,Hahnewald RMolybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2Hum Mutat32110-182011