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Summary
TRYPTOPHANURIA WITH DWARFISM
HYPERTRYPTOPHANEMIA
276100
OMIM = Online Medalian Inheritance of Men
---
unknown
  • nicotinamide
very rare (3 case reports)
autosomal recessive (?)
symptoms
ataxia
blindness, visual loss, visual impairment
growth retardation, poor growth
hearing defect, deafness
hypertonia, spasticity
mental retardation
motor retardation
myopia
onset, infancy
onset, neonatal
photophobia or photosensitive defect in light-exposed area
speech development, delayed, abnormal
laboratory finding
L-Tryptophan80.00240.001.008.00mmol/mol creatinineurine
L-Tryptophan 12.0069.00increasedplasma
DL-Kynurenin0.102.00 mmol/mol creatinineurine
Indole-3-acetic acid10.00100.00 mmol/mol creatinineurine
Indolepyruvic acid mmol/mol creatinineurine
Indole-3-acetic acid10.00100.00 mmol/mol creatinineurine
Literature
Crigler JFNajjar VACongenital familial nonhemolytic jaundice with kernicterusPediatrics100169-1791952
MacPhee GBet al.Malonyl coenzyme A decarboxylase deficiencyArch Dis Child690433-4361993
Yazigi NBalistreri WFBilirubinin Fernandes J, Saudubray JM, van den Berghe (eds): Inborn metabolic diseases, diagnosis and treatment Berlin, Springer Verlag00350-3571996
Yazigi NBalistreri WFBilirubinin Fernandes J, Saudubray JM, van den Berghe (eds): Inborn metabolic diseases, diagnosis and treatment Berlin, Springer Verlag00350-3571996
Treacy EPitt J, Eggington M, Hawkins RDicarboxylic aciduria, significant and prognostic indicationsEur J Pediatr15309181994