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Summary
HYPERTRYPTOPHANEMIA (HYPTRP)
600627
OMIM = Online Medalian Inheritance of Men
2224
4q32.2
very rare
autosomal recessive
mutation in the TDO2 gene

The biochemical phenotype of hypertryptophanemia and hyperserotoninemia
does not appear to have significant clinical consequences [Ferreira P 2017]
symptoms
no consistent clinical signs or symptoms
onset, childhood
onset, infancy
onset, neonatal
laboratory finding
L-Tryptophan +€mol/lplasma
Serotonine serum
Literature
Charmandari E,et al.Generalized glucocorticoid resistance: clinical aspects, molecular mechanisms, and implications of a rare genetic disorderJ Clin Endocrinol Metab9351563-15722008