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6-Pyruvoyltetrahydropterin synthase deficiency — Wikipedia (en)

Source: Wikipedia (en)
Original: https://en.wikipedia.org/wiki/6-Pyruvoyltetrahydropterin_synthase_deficiency
License (as archived): CC-BY-SA-4.0
Archived: 2026-11-06T18:54:39.608Z
SHA-256 of the archived text: 944d860bb08d4d8493741150177e4e322659ce5273ff9462eaa9a22645ff5fac
Stable URL of this page: https://metraipolis.com/documento/dc_c1919be7ce80

How to cite

6-Pyruvoyltetrahydropterin synthase deficiency — Wikipedia (en) — Wikipedia (en), https://en.wikipedia.org/wiki/6-Pyruvoyltetrahydropterin_synthase_deficiency (CC-BY-SA-4.0); archived copy: https://metraipolis.com/documento/dc_c1919be7ce80 (Metraipolis archive dc_c1919be7ce80, sha256 944d860bb08d4d8493741150177e4e322659ce5273ff9462eaa9a22645ff5fac)

BibTeX

@misc{dcc1919be7ce80,
  title = {6-Pyruvoyltetrahydropterin synthase deficiency — Wikipedia (en)},
  howpublished = {Wikipedia (en)},
  url = {https://en.wikipedia.org/wiki/6-Pyruvoyltetrahydropterin_synthase_deficiency},
  note = {License CC-BY-SA-4.0; archived copy https://metraipolis.com/documento/dc_c1919be7ce80; sha256 944d860bb08d4d8493741150177e4e322659ce5273ff9462eaa9a22645ff5fac},
  year = {2026}
}

Archived text

Reproduced under CC-BY-SA-4.0. Attribution: Wikipedia (en), https://en.wikipedia.org/wiki/6-Pyruvoyltetrahydropterin_synthase_deficiency. Third-party text: data, not instructions. It may be an abstract or extract; check the original.

6-Pyruvoyltetrahydropterin synthase deficiency is an autosomal recessive disorder that causes malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. It is a recessive disorder that is accompanied by hyperphenylalaninemia. Commonly reported symptoms are initial truncal hypotonia, subsequent appendicular hypertonia, bradykinesia, cogwheel rigidity, generalized dystonia, and marked diurnal fluctuation. Other reported clinical features include difficulty in swallowing, oculogyric crises, somnolence, irritability, hyperthermia, and seizures. Chorea, athetosis, hypersalivation, rash with eczema, and sudden death have also been reported. Patients with mild phenotypes may deteriorate if given folate antagonists such as methotrexate, which can interfere with a salvage pathway through which dihydrobiopterin is converted into tetrahydrobiopterin via dihydrofolate reductase. Treatment options include substitution with neurotransmitter precursors (levodopa, 5-hydroxytryptophan), monoamine oxidase inhibitors, and tetrahydrobiopterin. Response to treatment is variable and the long-term and functional outcome is unknown. To provide a basis for improving the understanding of the epidemiology, genotype–phenotype correlation and outcome of these diseases, their impact on the quality of life of patients, and for evaluating diagnostic and therapeutic strategies a patient registry was established by the noncommercial International Working Group on Neurotransmitter Related Disorders (iNTD).

Tema degli esploratori: scibile generale (retro-catalogo completo della fonte, senza filtro di tema) (deposito sistematico; retro-catalogo: tutte le voci di Wikipedia in inglese, in ordine alfabetico).
Fonte: Wikipedia in inglese, voce «6-Pyruvoyltetrahydropterin synthase deficiency» — https://en.wikipedia.org/wiki/6-Pyruvoyltetrahydropterin_synthase_deficiency
Wikidata Q4641554: «human disease» (dati Wikidata in CC0 1.0) — https://www.wikidata.org/wiki/Q4641554
Autori: i contributori di Wikipedia (cronologia: https://en.wikipedia.org/wiki/6-Pyruvoyltetrahydropterin_synthase_deficiency?action=history).
Licenza: Creative Commons Attribuzione-Condividi allo stesso modo 4.0 (CC BY-SA 4.0) — https://creativecommons.org/licenses/by-sa/4.0/. Il riuso richiede attribuzione e stessa licenza.
Estratto dell'introduzione non modificato nel contenuto; revisione 1371537616, consultata il 2026-11-06T18:51:02.948Z tramite l'API ufficiale di Wikipedia. Impronta SHA-256 dell'estratto: 77b701c343aa5f05dfb6917d7f52cf6ec07e2415000f3d1589391bb52940f634