Results 21 to 30 of about 553,208 (143)

Ethnic Bridging of Sepiapterin in Chinese and Korean Populations Based on Predictions From Genetic Polymorphism of Breast Cancer Resistance Protein. [PDF]

Clin Transl Sci
ABSTRACT Ethnic differences are crucial when considering the efficacy, safety, and dose of pharmaceuticals across diverse populations. The International Council for Harmonization of Technical Requirements for Pharmaceuticals for Human Use (ICH) guideline E5 addresses the acceptability of extrapolating foreign clinical data taking ethnic factors into ...
Gao L, Smith N, Kong R.
europepmc   +2 more sources

Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy. [PDF]

JIMD Rep, 2012
We report a 4-year-old girl heterozygous for X-linked adrenoleukodystrophy (ALD) who displayed dopa-responsive motor symptoms and was subsequently diagnosed with sepiapterin reductase deficiency (SPR; OMIM 182125). Her father and paternal uncle had known ALD, and she was found to have elevated plasma very long chain fatty acids and a mutation in the ...
Thibert R, Hyland K, Chiles J, Steinberg S, Eichler F.   +4 more
europepmc   +4 more sources

C.655C>T Variant of Sepiapterin Reductase Deficiency: Genetic and Bioinformatic Analysis. [PDF]

Mol Syndromol
<p>Background: Sepiapterin reductase deficiency (SRD) is a very rare psychomotor disorder related to enzyme defects in synthesizing tetrahydrobiopterin (BH4) with a spectrum of symptoms. The most common of which are developmental delay and hypotonia.
Eslamiyeh H, Sefid F, Iravani F.
europepmc   +3 more sources

Simultaneous assay of urine sepiapterin and creatinine in patients with sepiapterin reductase deficiency

Clinica Chimica Acta, 2022
Sepiapterin reductase deficiency (SRD) causes central nervous system symptoms due to dopamine and serotonin depletion because sepiapterin reductase plays an important role in tetrahydrobiopterin biosynthesis. SRD cannot be detected by newborn screening because of the absent hyperphenylalaninemia.
Yuki, Hyodo, Tomoyuki, Akiyama, Tetsuhiro, Fukuyama, Masakazu, Mimaki, Keiko, Watanabe, Tadayuki, Kumagai, Katsuhiro, Kobayashi   +6 more
openaire   +3 more sources

Clinical Features of Families with a Novel Pathogenic Mutation in Sepiapterin Reductase. [PDF]

Int J Mol Sci
Sepiapterin Reductase Deficiency (SRD) is a rare inherited neurometabolic disorder caused by variants in the SPR gene, which may lead to developmental delays, psychomotor retardation, and cognitive impairments. Two consanguineous North African and Middle
Mohamed FE, Alzyoud L, Ghattas MA, Tabouni M, Fienemann A, Trinh J, Baydoun I, Kizhakkedath P, Alblooshi H, Shaukat Q, Amouri R, Farrer MJ, Sassi SB, Al-Jasmi F.   +13 more
europepmc   +2 more sources

An Unusual Motor OFF in Parkinson's Disease. [PDF]

Mov Disord Clin Pract
Movement Disorders Clinical Practice, Volume 13, Issue 4, Page 1085-1087, April 2026.
Jha S, Jog MS.
europepmc   +2 more sources

The silkworm mutant lemon (lemon lethal) is a potential insect model for human sepiapterin reductase deficiency. [PDF]

J Biol Chem, 2009
Tetrahydrobiopterin (BH4) is an essential cofactor for aromatic acid hydroxylases, which control the levels of monoamine neurotransmitters. BH4 deficiency has been associated with many neuropsychological disorders. An inherited defect in BH4 biosynthesis is caused by the deficiency of sepiapterin reductase (SPR), which catalyzes the biosynthesis of BH4
Meng Y, Katsuma S, Daimon T, Banno Y, Uchino K, Sezutsu H, Tamura T, Mita K, Shimada T.   +8 more
europepmc   +4 more sources

A Single-Center Retrospective Cohort Study of Biopterin Metabolism Disorders in the United Arab Emirates. [PDF]

JIMD Rep
ABSTRACT Background Tetrahydrobiopterin (BH4) deficiencies comprise a group of five neurometabolic disorders caused by five genetic defects responsible for BH4 biosynthesis and regeneration. Their global prevalence remains unknown, and variance exists among different countries.
Jarrah O, Nouri M, Al Shamsi A.
europepmc   +2 more sources

Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder [PDF]

Brain, 2005
This study presents the clinical findings on seven children from Malta (population 385,000). All of them had early motor delay and a significant degree of cognitive impairment. Diurnal variation of the motor impairments was clear in six out of seven of the subjects and oculogyric crises occurred from an early stage also in six out of the seven.
B G R, Neville, R, Parascandalo, R, Farrugia, A, Felice   +3 more
openaire   +3 more sources

Possibility of the Nonenzymatic Conversion of 6-(1'-Oxo-2'-hydroxypropyl)- Tetrahydropterin to Sepiapterin

Pteridines, 2005
Tetrahydrobiopterin (BH4) is a cofactor for aromatic amino acid hydroxylases and nitric oxide synthase. The biosynthetic pathway of BH4 from 6-pyruvoyl-tetrahydropterin (PPH4) includes two reduction steps catalyzed by sepiapterin rcductasc (SPR).
Sawada Hiroshi, Shimura Natumi, Takikawa Shin-Ichiro, Lino Teruhiko   +3 more
doaj   +1 more source