Prevention of cerebral palsy in glutaric aciduria type 1 by dietary management

AIMS To study retrospectively the effects of treatment and the clinical outcome in 12 patients with glutaric aciduria type 1; and to compare the outcome in 6 patients diagnosed as a result of family screening with 6 patients who were diagnosed late after symptomatic presentation. SETTING The Nationa...

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Bibliographic Details
Published in:Archives of disease in childhood 2000-01, Vol.82 (1), p.67-70
Main Authors: Monavari, A A, Naughten, E R
Format: Article
Language:English
Subjects:
Adolescent
Adult
Age
Amino acids
Biological and medical sciences
Biomarkers - urine
Body Weight
Cerebral palsy
Cerebral Palsy - diagnosis
Cerebral Palsy - diet therapy
Cerebral Palsy - prevention & control
Child
Chromatography
Dehydrogenases
dietary management
dyskinetic cerebral palsy
Emergency preparedness
Energy
Enzymes
Families & family life
Family Health
Fibroblasts
Fluids
General and Specialist Paediatrics
Glutarates - urine
glutaric aciduria
Humans
Infections
Injuries
Magnetic Resonance Imaging
Mass spectrometry
Medical imaging
Medical sciences
Metabolic Diseases - urine
Metabolic disorders
Miscellaneous
NMR
Nuclear magnetic resonance
Patients
Prevention
Proteins
Radiotherapy. Instrumental treatment. Physiotherapy. Reeducation. Rehabilitation, orthophony, crenotherapy. Diet therapy and various other treatments (general aspects)
Retrospective Studies
Scientific Concepts
Scientific imaging
Tomography
Treatment Outcome
Urine
Viral infections
Vitamin B
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Summary:AIMS To study retrospectively the effects of treatment and the clinical outcome in 12 patients with glutaric aciduria type 1; and to compare the outcome in 6 patients diagnosed as a result of family screening with 6 patients who were diagnosed late after symptomatic presentation. SETTING The National Centre for Inherited Metabolic Disorders, The Children's Hospital, Dublin, Ireland. RESULT Four of the 6 children detected on screening are developmentally normal, 1 died, and the remaining 1 has mild mental handicap. All 6 of the late diagnosed symptomatic group suffered dyskinetic cerebral palsy and 5 have died. CONCLUSION Experience of 50 patient treatment years has shown that early intensive management can alter the natural history of this rare disorder. Key messages Glutaric aciduria type 1 should be considered in the differential diagnosis of dystonic/dyskinetic cerebral palsy, macrocephaly, and non-accidental injury Siblings, older and younger, must be screened In presymptomatic patients, supplementation with lcarnitine and intensive dietary treatment with aggressive emergency management results in a favourable outcome
ISSN:0003-9888
1468-2044
DOI:10.1136/adc.82.1.67