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Dublin Core
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Title
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Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results
Text
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URL Address
<a href="http://doi.org/10.1002/mds.870090105" target="_blank" rel="noreferrer noopener">http://doi.org/10.1002/mds.870090105</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
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Dystonia and dyskinesia in glutaric aciduria type I: clinical heterogeneity and therapeutic considerations
Publisher
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Movement Disorders
Date
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1994
Subject
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Male; Infant Newborn; Child; Humans; Adolescent; Female; Child Preschool; Infant; Neuropsychological Tests; Combined Modality Therapy; Tomography X-Ray Computed; Neurologic Examination; Disability Evaluation; Brain/pathology/physiopathology; Glutaryl-CoA Dehydrogenase; Oxidoreductases Acting on CH-CH Group Donors; Amino Acid Metabolism Inborn Errors/genetics/physiopathology/therapy; Dysarthria/genetics/physiopathology/therapy; Dystonia/genetics/physiopathology/therapy; Glutarates/urine; Intellectual Disability/genetics/physiopathology/therapy; Movement Disorders/genetics/physiopathology/therapy; Oxidoreductases/deficiency; tone and motor problems; glutaric acidemia type I; trajectory; characteristics; dystonic-dyskinesia disorder; hyperkinetic disorder
Creator
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Kyllerman M; Skjeldal O H; Lundberg M; Holme I; Jellum E; von Dobeln U; Fossen A; Carlsson G
Description
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Glutaric aciduria type I (GA-I) is an inborn error in the degradation of lysine, hydroxylysine, and tryptophan due to a deficiency of glutaryl-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.
Identifier
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<a href="http://doi.org/10.1002/mds.870090105" target="_blank" rel="noreferrer noopener">10.1002/mds.870090105</a>
Rights
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
1994
Adolescent
Amino Acid Metabolism Inborn Errors/genetics/physiopathology/therapy
Brain/pathology/physiopathology
Carlsson G
characteristics
Child
Child Preschool
Combined Modality Therapy
Disability Evaluation
Dysarthria/genetics/physiopathology/therapy
Dystonia/genetics/physiopathology/therapy
dystonic-dyskinesia disorder
Female
Fossen A
Glutarates/urine
Glutaric acidemia type I
Glutaryl-CoA Dehydrogenase
Holme I
Humans
hyperkinetic disorder
Infant
Infant Newborn
Intellectual Disability/genetics/physiopathology/therapy
Jellum E
Kyllerman M
Lundberg M
Male
Movement Disorders
Movement Disorders/genetics/physiopathology/therapy
Neurologic Examination
Neuropsychological Tests
Oxidoreductases Acting on CH-CH Group Donors
Oxidoreductases/deficiency
Skjeldal O H
Tomography X-Ray Computed
tone and motor problems
Trajectory
von Dobeln U