6-Pyruvoyltetrahydropterin synthase deficiency
id:
6-pyruvoyltetrahydropterin-synthase-deficiency-273-2226691
title:
6-Pyruvoyltetrahydropterin synthase deficiency
text:
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 cri
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/6-Pyruvoyltetrahydropterin_synthase_deficiency
date created:
date modified:
2024-02-10T23:55:39Z
main entity:
{"identifier":"Q4641554","url":"https://www.wikidata.org/entity/Q4641554"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/f/f1/Autosomal_recessive_-_en.svg","width":738,"height":1283}
fields total:
13
integrity:
15