Results 11 to 20 of about 553,208 (143)

Sepiapterin Reductase Deficiency: Mimic of Cerebral Palsy

Pediatric Neurology Briefs, 2012
Researchers at University of California at San Diego, and 22 other US national and international centers studied the clinical, biochemical, and molecular findings in a cohort of 38 patients with sepiapterin reductase deficiency (SRD).
J Gordon Millichap
doaj   +5 more sources

A murine model for human sepiapterin-reductase deficiency. [PDF]

Am J Hum Genet, 2006
Tetrahydrobiopterin (BH(4)) is an essential cofactor for several enzymes, including all three forms of nitric oxide synthases, the three aromatic hydroxylases, and glyceryl-ether mono-oxygenase. A proper level of BH(4) is, therefore, necessary for the metabolism of phenylalanine and the production of nitric oxide, catecholamines, and serotonin.
Yang S, Lee YJ, Kim JM, Park S, Peris J, Laipis P, Park YS, Chung JH, Oh SP.   +8 more
europepmc   +6 more sources

Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis. [PDF]

Mol Syndromol, 2023
<b><i>Introduction:</i></b> Sepiapterin reductase deficiency (SRD) is an exceedingly rare neurotransmitter disease caused by an enzyme error involved in the synthesis of tetrahydrobiopterin (BH4). It has been described in nearly 60 cases so far.
Engin Erdal A, Kıreker Köylü O, Ceylan AC, Kasapkara ÇS, Tunçez E, Topçu M.   +5 more
europepmc   +6 more sources

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies [PDF]

Orphanet Journal of Rare Diseases, 2020
Background Tetrahydrobiopterin (BH4) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance of BH4 biosynthesis or ...
Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horvath, Beat Thöny, Sabine Scholl-Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann, on behalf of the International Working Group on Neurotransmitter related Disorders (iNTD)   +30 more
doaj   +2 more sources

Mutations in the Sepiapterin Reductase Gene Cause a Novel Tetrahydrobiopterin-Dependent Monoamine-Neurotransmitter Deficiency without Hyperphenylalaninemia [PDF]

The American Journal of Human Genetics, 2001
Classic tetrahydrobiopterin (BH(4)) deficiencies are characterized by hyperphenylalaninemia and deficiency of monoamine neurotransmitters. In this article, we report two patients with progressive psychomotor retardation, dystonia, severe dopamine and serotonin deficiencies (low levels of 5-hydroxyindoleacetic and homovanillic acids), and abnormal ...
Bonafé, Luisa, Thöny, Beat, Penzien, Johann M., Czarnecki, Barbara, Blau, Nenad   +4 more
openaire   +3 more sources

Tetrahydrobiopterin Deficiencies without Hyperphenylalaninemia: Diagnosis and Genetics of DOPA-Responsive Dystonia and Sepiapterin Reductase Deficiency

Molecular Genetics and Metabolism, 2001
DOPA responsive dystonia (DRD) and sepiapterin reductase (SR) deficiency are inherited disorders of tetrahydrobiopterin (BH4) metabolism characterized by the signs and symptoms related to monoamine neurotransmitter deficiency. In contrast to classical forms of BH4 deficiency DRD and SR deficiency present without hyperphenylalaninemia and thus cannot be
N, Blau, L, Bonafé, B, Thöny
openaire   +3 more sources

Child Neurology: Paroxysmal stiffening, upward gaze, and hypotonia [PDF]

Neurology, 2012
Sepiapterin reductase deficiency (SRD) is a dopa-sensitive neurotransmitter disorder, caused by mutation of the SPR gene located on chromosome 2p14-p12.1 To date, 31 patients with 14 mutations have been diagnosed (BIODEF database, update November 2010, www.biopku.org).
Dill, P, Wagner, M, Somerville, A, Thöny, B, Blau, N, Weber, P   +5 more
openaire   +5 more sources

Leaky splicing variant in sepiapterin reductase deficiency: Are milder cases escaping diagnosis? [PDF]

Neurol Genet, 2019
Sepiapterin reductase deficiency (SRD), an extremely rare but treatable neurotransmitter disease, is an enzyme defect in the final step of tetrahydrobiopterin (BH4) synthesis.1 Unlike other forms of BH4-deficient dopa-responsive dystonia, SRD uniquely does not manifest hyperphenylalaninemia and thus slips through detection by newborn screening.
Nakagama Y, Hamanaka K, Mimaki M, Shintaku H, Miyatake S, Matsumoto N, Hirohata K, Inuzuka R, Oka A.   +8 more
europepmc   +5 more sources

Sepiapterin reductase deficiency in a 2‐year‐old girl with incomplete response to treatment during short‐term follow‐up

Journal of Inherited Metabolic Disease, 2009
SummarySepiapterin reductase (SR) catalyses the last step in the tetrahydrobiopterin biosynthesis pathway; it converts 6‐pyruvoyl‐tetrahydropterin (6‐PTP) to BH4 in an NADPH‐dependent reaction. SR deficiency is a very rare autosomal recessive disorder with normal phenylalanine (Phe) concentration in blood and diagnostic abnormalities are detected in ...
Kusmierska, K, Jansen, E E W, Jakobs, C, Szymanska, K, Malunowicz, E, Meilei, D, Thony, B, Blau, N, Tryfon, J, Rokicki, D, Pronicka, E, Sykut-Cegielska, J   +11 more
openaire   +3 more sources

A Novel Multimodal LC-MS/MS Panel for the Comprehensive Diagnosis of Neurometabolic Disorders in CSF. [PDF]

J Inherit Metab Dis
ABSTRACT Metabolic testing of cerebrospinal fluid (CSF) is essential for early diagnosis of neurometabolic disorders. However, the large number of differential diagnoses, the phenotypic variance within a clinical picture, and the disease rarity complicate targeted metabolic diagnostics.
Christ S, Rossmann J, Richter S, Garbade S, Klinke G, Blau N, Hoffmann GF, Okun JG, Opladen T.   +8 more
europepmc   +2 more sources