Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia
Identifieur interne : 001752 ( Main/Exploration ); précédent : 001751; suivant : 001753Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia
Auteurs : Thomas Opladen [Allemagne] ; Georg Hoffmann [Allemagne] ; Friederike Hörster [Allemagne] ; Anne-B Rbel Hinz [Allemagne] ; Katharina Neidhardt [Allemagne] ; Christine Klein [Allemagne] ; Nicole Wolf [Pays-Bas]Source :
- Movement Disorders [ 0885-3185 ] ; 2011-01.
Descripteurs français
- Pascal (Inist)
- Wicri :
English descriptors
- KwdEn :
- Antiparkinson Agents (therapeutic use), Carbidopa (therapeutic use), Child, Child, Preschool, Deficiency, Deficiency Diseases (diagnosis), Deficiency Diseases (drug therapy), Deficiency Diseases (enzymology), Drug Combinations, Extrapyramidal syndrome, Female, Follow-Up Studies, GTP Cyclohydrolase (deficiency), GTP Cyclohydrolase (genetics), GTP cyclohydrolase I, Human, Humans, Hyperphenylalaninemia, Infant, Levodopa (therapeutic use), Male, Mutation (genetics), Nervous system diseases, Neurotransmitter Agents (metabolism), Phenylketonurias (physiopathology), Segawa disease, Tetrahydrobiopterin, autosomal recessive GTP cyclohydrolase I, dopa‐responsive dystonia, extrapyramidal movements, hyperphenylalaninemia, tetrahydrobiopterin, truncal hyptonia.
- MESH :
- chemical , deficiency : GTP Cyclohydrolase.
- chemical , genetics : GTP Cyclohydrolase.
- chemical , metabolism : Neurotransmitter Agents.
- chemical , therapeutic use : Antiparkinson Agents, Carbidopa, Levodopa.
- diagnosis : Deficiency Diseases.
- drug therapy : Deficiency Diseases.
- enzymology : Deficiency Diseases.
- genetics : Mutation.
- physiopathology : Phenylketonurias.
- Child, Preschool, Drug Combinations, Female, Follow-Up Studies, Humans, Infant, Male.
Abstract
Autosomal recessive guanosine triphosphate cyclohydrolase (GTPCH) type I deficiency is characterized by complex neurological dysfunction. Patients are usually diagnosed with hyperphenylalaninemia in newborn screening. We describe two unrelated patients without hyperphenylalaninemia who presented during early infancy with severe motor retardation, hypokinesia, and truncal hypotonia. CSF homovanillic acid and 5‐hydroxyindoleacetic acid as well as tetrahydrobiopterin and neopterin were decreased. Diagnosis of recessive GTPCH deficiency was confirmed biochemically, and a novel homozygous mutation was identified in one patient and a compound‐heterozygous mutation of GCH1 in the other. Treatment with Levodopa/Carbidopa resulted in striking clinical improvement, with age‐appropriate development at follow‐up at 6 years. Autosomal recessive GTPCH deficiency should be considered in infants with severe truncal hypotonia even if hyperphenylalaninemia or classical extrapyramidal symptoms are missing. Neurotransmitter analysis followed by enzyme or mutation analysis can confirm the diagnosis, and Levodopa treatment should be started at high‐doses. © 2010 Movement Disorder Society
Url:
DOI: 10.1002/mds.23329
Affiliations:
- Allemagne, Pays-Bas
- Bade-Wurtemberg, District de Karlsruhe, Hollande-Septentrionale
- Amsterdam, Heidelberg
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Le document en format XML
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first="Nicole" last="Wolf">Nicole Wolf</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Child Neurology, VU University Medical Center (VUmc), Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2011-01">2011-01</date><biblScope unit="vol">26</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="157">157</biblScope><biblScope unit="page" to="161">161</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">3F007F77454891D9AE45226F858CC0C8B5DCE359</idno><idno type="DOI">10.1002/mds.23329</idno><idno type="ArticleID">MDS23329</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Antiparkinson Agents (therapeutic use)</term><term>Carbidopa (therapeutic use)</term><term>Child</term><term>Child, Preschool</term><term>Deficiency</term><term>Deficiency Diseases (diagnosis)</term><term>Deficiency Diseases (drug therapy)</term><term>Deficiency Diseases (enzymology)</term><term>Drug Combinations</term><term>Extrapyramidal syndrome</term><term>Female</term><term>Follow-Up Studies</term><term>GTP Cyclohydrolase (deficiency)</term><term>GTP Cyclohydrolase (genetics)</term><term>GTP cyclohydrolase I</term><term>Human</term><term>Humans</term><term>Hyperphenylalaninemia</term><term>Infant</term><term>Levodopa (therapeutic use)</term><term>Male</term><term>Mutation (genetics)</term><term>Nervous system diseases</term><term>Neurotransmitter Agents (metabolism)</term><term>Phenylketonurias (physiopathology)</term><term>Segawa disease</term><term>Tetrahydrobiopterin</term><term>autosomal recessive GTP cyclohydrolase I</term><term>dopa‐responsive dystonia</term><term>extrapyramidal movements</term><term>hyperphenylalaninemia</term><term>tetrahydrobiopterin</term><term>truncal hyptonia</term></keywords><keywords scheme="MESH" type="chemical" qualifier="deficiency" xml:lang="en"><term>GTP Cyclohydrolase</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>GTP Cyclohydrolase</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Neurotransmitter Agents</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Antiparkinson Agents</term><term>Carbidopa</term><term>Levodopa</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Deficiency Diseases</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Deficiency Diseases</term></keywords><keywords scheme="MESH" qualifier="enzymology" xml:lang="en"><term>Deficiency Diseases</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Phenylketonurias</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Child, Preschool</term><term>Drug Combinations</term><term>Female</term><term>Follow-Up Studies</term><term>Humans</term><term>Infant</term><term>Male</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Bioptérine(tétrahydro)</term><term>Déficit</term><term>Enfant</term><term>GTP cyclohydrolase I</term><term>Homme</term><term>Hyperphénylalaninémie</term><term>Maladie de Segawa</term><term>Pathologie du système nerveux</term><term>Syndrome extrapyramidal</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Déficit</term><term>Enfant</term><term>Homme</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Autosomal recessive guanosine triphosphate cyclohydrolase (GTPCH) type I deficiency is characterized by complex neurological dysfunction. Patients are usually diagnosed with hyperphenylalaninemia in newborn screening. We describe two unrelated patients without hyperphenylalaninemia who presented during early infancy with severe motor retardation, hypokinesia, and truncal hypotonia. CSF homovanillic acid and 5‐hydroxyindoleacetic acid as well as tetrahydrobiopterin and neopterin were decreased. Diagnosis of recessive GTPCH deficiency was confirmed biochemically, and a novel homozygous mutation was identified in one patient and a compound‐heterozygous mutation of GCH1 in the other. Treatment with Levodopa/Carbidopa resulted in striking clinical improvement, with age‐appropriate development at follow‐up at 6 years. Autosomal recessive GTPCH deficiency should be considered in infants with severe truncal hypotonia even if hyperphenylalaninemia or classical extrapyramidal symptoms are missing. Neurotransmitter analysis followed by enzyme or mutation analysis can confirm the diagnosis, and Levodopa treatment should be started at high‐doses. © 2010 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Pays-Bas</li></country><region><li>Bade-Wurtemberg</li><li>District de Karlsruhe</li><li>Hollande-Septentrionale</li></region><settlement><li>Amsterdam</li><li>Heidelberg</li></settlement></list><tree><country name="Allemagne"><region name="Bade-Wurtemberg"><name sortKey="Opladen, Thomas" sort="Opladen, Thomas" uniqKey="Opladen T" first="Thomas" last="Opladen">Thomas Opladen</name></region><name sortKey="Hinz, Anne Rbel" sort="Hinz, Anne Rbel" uniqKey="Hinz A" first="Anne-B Rbel" last="Hinz">Anne-B Rbel Hinz</name><name sortKey="Hoffmann, Georg" sort="Hoffmann, Georg" uniqKey="Hoffmann G" first="Georg" last="Hoffmann">Georg Hoffmann</name><name sortKey="Horster, Friederike" sort="Horster, Friederike" uniqKey="Horster F" first="Friederike" last="Hörster">Friederike Hörster</name><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><name sortKey="Neidhardt, Katharina" sort="Neidhardt, Katharina" uniqKey="Neidhardt K" first="Katharina" last="Neidhardt">Katharina Neidhardt</name></country><country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Wolf, Nicole" sort="Wolf, Nicole" uniqKey="Wolf N" first="Nicole" last="Wolf">Nicole Wolf</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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