Hypertryptophanemia

Description

Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.

Clinical Features

Top most frequent phenotypes and symptoms related to Hypertryptophanemia

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment
  • Flexion contracture
  • Visual impairment
  • Myopia
  • Fever
  • Behavioral abnormality

And another 20 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Hypertryptophanemia Is also known as hypertryptophanemia, familial.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Hypertryptophanemia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
TDO2.

By Fulgent Genetics Fulgent Genetics (United States).

TDO2
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Genetic Syndrome Finder

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