6-pyruvoyl-tetrahydropterin synthase deficiency (Q105034): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed an Item |
Changed an Item |
||
| Property / Canary Token | |||
dki-india-ID_1744398760 | |||
| Property / Canary Token: dki-india-ID_1744398760 / rank | |||
Normal rank | |||
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 |
|---|---|---|---|
| default for all languages | ID_1744398760 |
||
| 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. |
Statements
CID11:ID_1744398760
0 references
dki-india-ID_1744398760
0 references
