Deprenyl in 6-Pyruvoyl Tetrahydropterin Synthase Deficiency
نویسندگان
چکیده
منابع مشابه
6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia.
Severe 6-pyruvoyl-tetrahydrobiopterin synthase deficiency is a tetrahydrobiopterin deficiency disorder that presents in infancy with developmental delay, seizures, and abnormal movements associated with hyperphenylalaninemia usually detectable by neonatal phenylketonuria screening programs. We describe an 8-year-old girl with delay, seizures, and dystonia with mild hyperphenylalaninemia detecte...
متن کاملDefect in pyruvoyl-tetrahydropterin synthase
Keywords Disease name and synonyms Excluded diseases Diagnostic criteria/definition Differential diagnosis Prevalence Clinical description Management including treatment Diagnostic methods Genetic counseling Antenatal diagnosis References Abstract 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalanine...
متن کاملPurification of 6-pyruvoyl-tetrahydropterin synthase from human liver.
The enzyme which catalyzes the first step in the conversion of dihydroneopterin triphosphate to tetrahydrobiopterin has been purified approx. 40,000-fold from human liver to apparent homogeneity. The enzyme has a native molecular weight of approximately 83,000 and consists of four identical subunits, each of which has a molecular weight of approximately 19,000. It contains carbohydrates and is ...
متن کاملLong-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency.
Little information is available on the long-term course and adult outcome of patients with 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency. We describe the course of a 32-year-old woman with hypotonia, dystonia, choreoathetosis, mental retardation, behavioral disturbances, and incomplete puberty due to PTPS deficiency. From the age of 6 months she developed progressive hypotonia and chor...
متن کاملLong-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency.
OBJECTIVE To report the long-term results of early initiation of treatment of 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency. DESIGN Between 1988 and 2000, 12 newborns with PTPS deficiency who underwent early treatment at our hospital were identified. All patients received tetrahydrobiopterin replacement in a daily dosage between approximately 2 and 4 mg/kg. The dosages of levodopa re...
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ژورنال
عنوان ژورنال: Pteridines
سال: 1995
ISSN: 2195-4720,0933-4807
DOI: 10.1515/pteridines.1995.6.3.144