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Summary
RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION
RTA, PROXIMAL, AUTOSOMAL RECESSIVE
604278
OMIM = Online Medalian Inheritance of Men
93607
4q13.3
  • sodium bicarbonate
rare
autosomal recessive
Isolated pRTA can be divided into three sub-categories (T. Igarashi et al. 2002):
(1) autosomal dominant pRTA
(2) autosomal recessive pRTA with ocular abnormalities (3) sporadic isolated pRTA
symptoms
cataract
corneal deposits
dehydration
failure to thrive
Fanconi syndrome
fever
glaucoma
growth retardation
mental retardation
metabolic acidosis
short stature
laboratory finding
Potassium2.003.003.505.50mmol/lserum
Chloride 98.00106.00increasedserum
pH7.207.307.357.45no unitblood
pH4.005.006.007.00no uniturineinfancy
Literature
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Thomason MJet al.A systematic review of evidence for the appropriateness of neonatal screening programmes for inborn errors of metabolismJ Public Health Med203331-3431998
Imaiso Yet al.A novel mutation of the GTP-cyclohydrolase I gene in a patient with hereditary progressive dystonia/dopa-responsive dystoniaNeurology500517-5191998
Fitzgerald MJet al.Early metabolic effects of sepsis in the preterm infant: lactic acidosis and increased glucose requirementsJ Pediatr1210951-9521992
Holder JL Jr,et al.Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiencyJAMA Neurol716782-7842014
Reiss J,Hahnewald RMolybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2Hum Mutat32110-182011