Dihydropteridine reductase deficiency (Q105033): Difference between revisions
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A deficiência da diidropteridina redutase, um distúrbio genético autossômico recessivo, é uma das causas da hiperfenilalaninemia maligna devido à deficiência de tetra-hidrobiopterina e também é responsável pela neurotransmissão defeituosa de monoaminas. Quando não tratada, sua deficiência leva a sinais neurológicos que incluem: retardo psicomotor, distúrbios de tonicidade, sonolência, irritabilidade, movimentos anormais, hipertermia, hipersalivação e dificuldade de engolir. | |||
| description / en | description / en | ||
Dihydropteridine reductase (DHPR) deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterine deficiency, and is also responsible for defective neurotransmission of monoamines. When left untreated, DHPR deficiency leads to neurological signs that include: psychomotor retardation, tonicity disorders, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation, and difficult swallowing. | |||
Revision as of 10:56, 17 August 2026
Dihydropteridine reductase (DHPR) deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterine deficiency, and is also responsible for defective neurotransmission of monoamines. When left untreated, DHPR deficiency leads to neurological signs that include: psychomotor retardation, tonicity disorders, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation, and difficult swallowing.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1931239861 |
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| English | Dihydropteridine reductase deficiency |
Dihydropteridine reductase (DHPR) deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterine deficiency, and is also responsible for defective neurotransmission of monoamines. When left untreated, DHPR deficiency leads to neurological signs that include: psychomotor retardation, tonicity disorders, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation, and difficult swallowing. |
