MovDisordV3, Main, Exploration, bibRecord, 005B90

Dystonia and dyskinesia in glutaric aciduria type I: Clinical heterogeneity and therapeutic considerations

Identifieur interne : 005B90 ( Main/Exploration ); précédent : 005B89; suivant : 005B91

Dystonia and dyskinesia in glutaric aciduria type I: Clinical heterogeneity and therapeutic considerations

Auteurs : Kyllerman [Suède] ; O. H. Skjeldal [Norvège] ; M. Lundberg [Suède] ; I. Holme [Suède] ; E. Jellum [Norvège] ; U. Von Döbeln [Suède] ; A. Fossen [Norvège] ; G. Carlsson [Suède]

Source :

Movement Disorders [ 0885-3185 ] ; 1994.

RBID : ISTEX:899195A95CFBB8B021B5C469319DD2A29B1A9B18

English descriptors

KwdEn :
- Adolescent, Amino Acid Metabolism, Inborn Errors (genetics), Amino Acid Metabolism, Inborn Errors (physiopathology), Amino Acid Metabolism, Inborn Errors (therapy), Brain (pathology), Brain (physiopathology), Child, Child, Preschool, Combined Modality Therapy, Disability Evaluation, Dysarthria (genetics), Dysarthria (physiopathology), Dysarthria (therapy), Dyskinesia, Dystonia, Dystonia (genetics), Dystonia (physiopathology), Dystonia (therapy), Extrapyramidal disorder, Female, Glutarates (urine), Glutaric aciduria type I, Glutaryl-CoA Dehydrogenase, Humans, Infant, Infant, Newborn, Intellectual Disability (genetics), Intellectual Disability (physiopathology), Intellectual Disability (therapy), Male, Movement Disorders (genetics), Movement Disorders (physiopathology), Movement Disorders (therapy), Neurologic Examination, Neuropsychological Tests, Oxidoreductases (deficiency), Oxidoreductases Acting on CH-CH Group Donors, Tomography, X-Ray Computed.
MESH :
- chemical , deficiency : Oxidoreductases.
- chemical , urine : Glutarates.
- genetics : Amino Acid Metabolism, Inborn Errors, Dysarthria, Dystonia, Intellectual Disability, Movement Disorders.
- pathology : Brain.
- physiopathology : Amino Acid Metabolism, Inborn Errors, Brain, Dysarthria, Dystonia, Intellectual Disability, Movement Disorders.
- therapy : Amino Acid Metabolism, Inborn Errors, Dysarthria, Dystonia, Intellectual Disability, Movement Disorders.
- Adolescent, Child, Child, Preschool, Combined Modality Therapy, Disability Evaluation, Female, Glutaryl-CoA Dehydrogenase, Humans, Infant, Infant, Newborn, Male, Neurologic Examination, Neuropsychological Tests, Oxidoreductases Acting on CH-CH Group Donors, Tomography, X-Ray Computed.

Abstract

Glutaric aciduria type I (GA‐I) is an inborn error in the degradation of lysine, hydroxylysine, and tryptophan due to a defiency of glutary‐CoA dehydrogenase. Glutaric, 3‐OH‐glutaric, and glutaconic acids are excreted in the urine, particularly during intercurrent illness. The enzyme may be assayed in leukocytes, cultured fibroblasts and chorionic villi. Twelve new cases, 9 months‐16 years of age, are reported, comprising all known cases of GA‐I in Sweden and Norway. Ten had a severe dystonic‐dyskinetic disorder, one had a mild hyperkinetic disorder, and one was asymptomatic. Two children died in a state of hyperthermia. Carnitine deficiency and malnutrition developed in patients with severe dystonia and dysphagia, which necessitated substitution and gastrostomy. A slowly progressive dyskinetic disorder developed in spite of adequate early dietary treatment in one subject. Macrocephaly was found in three. Computed tomography and magnetic resonance investigations in 10 showed deep bitemporal spaces in 7. Neuropsychological testing of 8 of 12 subjects demonstrated receptive language function to be superior to expressive language and motor function. Cognitive functions were obviously less affected than motor functions. A review of 57 pooled cases showed that a severe dystonic syndrome developed in 77%, a mild extrapyramidal syndrome in 10%, and 12% were asymptomatic. This disorder may pass undetected in the cerebral palsy and mentally retarded child and adult populations. Repeated urine examinations of organic acids in the urine and enzyme assay may be necessary to confirm GA‐I.

Url:

https://api.istex.fr/document/899195A95CFBB8B021B5C469319DD2A29B1A9B18/fulltext/pdf

DOI: 10.1002/mds.870090105

Affiliations:

Norvège, Suède

Le document en format XML

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<author><name sortKey="Lundberg, M" sort="Lundberg, M" uniqKey="Lundberg M" first="M." last="Lundberg">M. Lundberg</name>
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<author><name sortKey="Holme, I" sort="Holme, I" uniqKey="Holme I" first="I." last="Holme">I. Holme</name>
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<author><name sortKey="Jellum, E" sort="Jellum, E" uniqKey="Jellum E" first="E." last="Jellum">E. Jellum</name>
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<author><name sortKey="Von Dobeln, U" sort="Von Dobeln, U" uniqKey="Von Dobeln U" first="U." last="Von Döbeln">U. Von Döbeln</name>
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<term>Amino Acid Metabolism, Inborn Errors (physiopathology)</term>
<term>Amino Acid Metabolism, Inborn Errors (therapy)</term>
<term>Brain (pathology)</term>
<term>Brain (physiopathology)</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Combined Modality Therapy</term>
<term>Disability Evaluation</term>
<term>Dysarthria (genetics)</term>
<term>Dysarthria (physiopathology)</term>
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<term>Dystonia (genetics)</term>
<term>Dystonia (physiopathology)</term>
<term>Dystonia (therapy)</term>
<term>Extrapyramidal disorder</term>
<term>Female</term>
<term>Glutarates (urine)</term>
<term>Glutaric aciduria type I</term>
<term>Glutaryl-CoA Dehydrogenase</term>
<term>Humans</term>
<term>Infant</term>
<term>Infant, Newborn</term>
<term>Intellectual Disability (genetics)</term>
<term>Intellectual Disability (physiopathology)</term>
<term>Intellectual Disability (therapy)</term>
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<term>Movement Disorders (genetics)</term>
<term>Movement Disorders (physiopathology)</term>
<term>Movement Disorders (therapy)</term>
<term>Neurologic Examination</term>
<term>Neuropsychological Tests</term>
<term>Oxidoreductases (deficiency)</term>
<term>Oxidoreductases Acting on CH-CH Group Donors</term>
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<term>Dysarthria</term>
<term>Dystonia</term>
<term>Intellectual Disability</term>
<term>Movement Disorders</term>
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<term>Dysarthria</term>
<term>Dystonia</term>
<term>Intellectual Disability</term>
<term>Movement Disorders</term>
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<term>Dysarthria</term>
<term>Dystonia</term>
<term>Intellectual Disability</term>
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<term>Female</term>
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<front><div type="abstract" xml:lang="en">Glutaric aciduria type I (GA‐I) is an inborn error in the degradation of lysine, hydroxylysine, and tryptophan due to a defiency of glutary‐CoA dehydrogenase. Glutaric, 3‐OH‐glutaric, and glutaconic acids are excreted in the urine, particularly during intercurrent illness. The enzyme may be assayed in leukocytes, cultured fibroblasts and chorionic villi. Twelve new cases, 9 months‐16 years of age, are reported, comprising all known cases of GA‐I in Sweden and Norway. Ten had a severe dystonic‐dyskinetic disorder, one had a mild hyperkinetic disorder, and one was asymptomatic. Two children died in a state of hyperthermia. Carnitine deficiency and malnutrition developed in patients with severe dystonia and dysphagia, which necessitated substitution and gastrostomy. A slowly progressive dyskinetic disorder developed in spite of adequate early dietary treatment in one subject. Macrocephaly was found in three. Computed tomography and magnetic resonance investigations in 10 showed deep bitemporal spaces in 7. Neuropsychological testing of 8 of 12 subjects demonstrated receptive language function to be superior to expressive language and motor function. Cognitive functions were obviously less affected than motor functions. A review of 57 pooled cases showed that a severe dystonic syndrome developed in 77%, a mild extrapyramidal syndrome in 10%, and 12% were asymptomatic. This disorder may pass undetected in the cerebral palsy and mentally retarded child and adult populations. Repeated urine examinations of organic acids in the urine and enzyme assay may be necessary to confirm GA‐I.</div>
</front>
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Movement Disorders (revue)

Dystonia and dyskinesia in glutaric aciduria type I: Clinical heterogeneity and therapeutic considerations

Dystonia and dyskinesia in glutaric aciduria type I: Clinical heterogeneity and therapeutic considerations

Source :

English descriptors

Abstract

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	Movement Disorders (revue)
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