6-pyruvoyl-tetrahydropterin synthase deficiency (Q105034): Difference between revisions
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A deficiência de 6-piruvoil-tetrahidropterina sintetase é uma das causas da hiperfenilalaninemia maligna devido à deficiência de tetra-hidrobiopterina, bem como da neurotransmissão defeituosa de monoaminas. Quando não tratada, a deficiência causa sinais neurológicos aos 4 ou 5 meses de idade, incluindo retardo psicomotor, distúrbios do tônus, convulsões, sonolência, irritabilidade, movimentos anormais, hipertermia, hipersalivação e dificuldade em engolir. | |||
| description / en | description / en | ||
6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency, as well as of defective neurotransmission of monoamines. When left untreated, the deficiency causes neurological signs at age 4 or 5 months including psychomotor retardation, tonus disorders, convulsions, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation and difficulty swallowing. | |||
Revision as of 10:56, 17 August 2026
6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency, as well as of defective neurotransmission of monoamines. When left untreated, the deficiency causes neurological signs at age 4 or 5 months including psychomotor retardation, tonus disorders, convulsions, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation and difficulty swallowing.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1744398760 |
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| English | 6-pyruvoyl-tetrahydropterin synthase deficiency |
6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency, as well as of defective neurotransmission of monoamines. When left untreated, the deficiency causes neurological signs at age 4 or 5 months including psychomotor retardation, tonus disorders, convulsions, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation and difficulty swallowing. |
