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Dopa-responsive infantile hypokinetic rigid syndrome due to dominant guanosine triphosphate cyclohydrolase 1 deficiency. 2007

Eduardo López-Laso, and Rafael Camino, and Maria Elena Mateos, and Juan Luis Pérez-Navero, and Juan José Ochoa, and José Ignacio Lao-Villadóniga, and Aida Ormazabal, and Rafael Artuch
Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofia, University of Córdoba, Córdoba, Spain. med020053@saludalia.com

We report on a GTP cyclohydrolase 1 mutation-confirmed heterozygous case presenting with an infantile hypokinetic rigid syndrome and delay in attainment of motor milestones starting from the first year of life. He had a family history of dopa-responsive dystonia-parkinsonism. CSF neopterin, biopterin and HVA values were decreased. Molecular study of GCH-1 gene showed the Q89X mutation in exon 1. Treatment with l-dopa resulted in a complete remission of symptoms.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007980 Levodopa The naturally occurring form of DIHYDROXYPHENYLALANINE and the immediate precursor of DOPAMINE. Unlike dopamine itself, it can be taken orally and crosses the blood-brain barrier. It is rapidly taken up by dopaminergic neurons and converted to DOPAMINE. It is used for the treatment of PARKINSONIAN DISORDERS and is usually given with agents that inhibit its conversion to dopamine outside of the central nervous system. L-Dopa,3-Hydroxy-L-tyrosine,Dopaflex,Dopar,L-3,4-Dihydroxyphenylalanine,Larodopa,Levopa,3 Hydroxy L tyrosine,L 3,4 Dihydroxyphenylalanine,L Dopa
D008297 Male Males
D009127 Muscle Rigidity Continuous involuntary sustained muscle contraction which is often a manifestation of BASAL GANGLIA DISEASES. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from MUSCLE SPASTICITY. (From Adams et al., Principles of Neurology, 6th ed, p73) Cogwheel Rigidity,Extrapyramidal Rigidity,Gegenhalten,Nuchal Rigidity,Rigidity, Muscular,Catatonic Rigidity,Extensor Rigidity,Cogwheel Rigidities,Gegenhaltens,Muscular Rigidity,Rigidities, Cogwheel,Rigidity, Catatonic,Rigidity, Cogwheel,Rigidity, Extensor,Rigidity, Extrapyramidal,Rigidity, Muscle,Rigidity, Nuchal
D005192 Family Health The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members. Health, Family
D005260 Female Females
D006136 GTP Cyclohydrolase (GTP cyclohydrolase I) or GTP 7,8-8,9-dihydrolase (pyrophosphate-forming) (GTP cyclohydrolase II). An enzyme group that hydrolyzes the imidazole ring of GTP, releasing carbon-8 as formate. Two C-N bonds are hydrolyzed and the pentase unit is isomerized. This is the first step in the synthesis of folic acid from GTP. EC 3.5.4.16 (GTP cyclohydrolase I) and EC 3.5.4.25 (GTP cyclohydrolase II). GTP 8-Formylhydrolase,GTP Dihydrolase,GTP Ring-Opening Enzyme,7,8-Dihydroneopterintriphosphate Synthetase,GTP Cyclohydrolase I,GTP Cyclohydrolase II,7,8 Dihydroneopterintriphosphate Synthetase,8-Formylhydrolase, GTP,Cyclohydrolase I, GTP,Cyclohydrolase II, GTP,Cyclohydrolase, GTP,Dihydrolase, GTP,GTP 8 Formylhydrolase,GTP Ring Opening Enzyme,Ring-Opening Enzyme, GTP,Synthetase, 7,8-Dihydroneopterintriphosphate
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000978 Antiparkinson Agents Agents used in the treatment of Parkinson's disease. The most commonly used drugs act on the dopaminergic system in the striatum and basal ganglia or are centrally acting muscarinic antagonists. Antiparkinson Drugs,Antiparkinsonian Agents,Antiparkinsonians,Agents, Antiparkinson,Agents, Antiparkinsonian,Drugs, Antiparkinson
D012189 Retrospective Studies Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons. Retrospective Study,Studies, Retrospective,Study, Retrospective

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