Tyrosine hydroxylase deficiency (Q86668): Difference between revisions
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| description / pt-br | description / pt-br | ||
É uma condição que ocorre entre 2 e 18 meses de idade, caracterizada por concentrações diminuídas de serotonina e catecolaminas. Os sintomas podem incluir: hipersalivação, instabilidade de temperatura, ptose, crises oculogíricas, hipocinesia, coreia distal, hipotonia troncular, dificuldades de deglutição, sonolência e irritabilidade. O diagnóstico é estabelecido pelo achado de baixas concentrações de ácido homovanílico e 3-metoxi-4-hidroxifenilglicol no líquido cefalorraquidiano. | |||
| description / en | description / en | ||
This is a condition presenting between 2-18 months of age, characterised by decreased concentrations of serotonin and catecholamines. Symptoms may include: hypersalivation, temperature instability, pinpoint pupils, ptosis, oculogyric crises, hypokinesis, distal chorea, truncal hypotonia, swallowing difficulties, drowsiness and irritability. Diagnois is established by finding low spinal fluid concentrations of homovanilic acid and 3-methoxy-4-hydroxy-phenylglycol. | |||
Revision as of 12:06, 15 August 2026
This is a condition presenting between 2-18 months of age, characterised by decreased concentrations of serotonin and catecholamines. Symptoms may include: hypersalivation, temperature instability, pinpoint pupils, ptosis, oculogyric crises, hypokinesis, distal chorea, truncal hypotonia, swallowing difficulties, drowsiness and irritability. Diagnois is established by finding low spinal fluid concentrations of homovanilic acid and 3-methoxy-4-hydroxy-phenylglycol.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_247698609 |
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| English | Tyrosine hydroxylase deficiency |
This is a condition presenting between 2-18 months of age, characterised by decreased concentrations of serotonin and catecholamines. Symptoms may include: hypersalivation, temperature instability, pinpoint pupils, ptosis, oculogyric crises, hypokinesis, distal chorea, truncal hypotonia, swallowing difficulties, drowsiness and irritability. Diagnois is established by finding low spinal fluid concentrations of homovanilic acid and 3-methoxy-4-hydroxy-phenylglycol. |
