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<a href="http://doi.org/10.1002/ana.20702" target="_blank" rel="noreferrer">http://doi.org/10.1002/ana.20702</a>
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Title
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Clinical and biochemical spectrum of D-bifunctional protein deficiency
Publisher
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Annals Of Neurology
Date
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2006
Subject
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Child; Humans; Cohort Studies; Questionnaires; Longitudinal Studies; Magnetic Resonance Imaging; Preschool; infant; Lipid Metabolism; 3-Hydroxyacyl CoA Dehydrogenases/deficiency; Blood Chemical Analysis; Bone and Bones/anatomy & histology/pathology; Brain/anatomy & histology/pathology; Enoyl-CoA Hydratase/deficiency; Fibroblasts/cytology/metabolism; Inborn Errors; Isomerases/deficiency; Kidney/anatomy & histology/pathology; Life Expectancy; Liver/anatomy & histology/pathology; Multienzyme Complexes/deficiency; Peroxisomal Disorders/classification/pathology/physiopathology
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Ferdinandusse S; Denis S; Mooyer PA; Dekker C; Duran M; Soorani-Lunsing RJ; Boltshauser E; Macaya A; Gartner J; Majoie CB; Barth PG; Wanders RJ; Poll-The BT
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OBJECTIVE: D-bifunctional protein deficiency is an autosomal recessive inborn error of peroxisomal fatty acid oxidation. Although case reports and small series of patients have been published, these do not give a complete and balanced picture of the clinical and biochemical spectrum associated with this disorder. METHODS: To improve early recognition, diagnosis, prognosis, and management of this disorder and to provide markers for life expectancy, we performed extensive biochemical studies in a large cohort of D-bifunctional protein-deficient patients and sent out questionnaires about clinical signs and symptoms to the responsible physicians. RESULTS: Virtually all children presented with neonatal hypotonia and seizures and died within the first 2 years of life without achieving any developmental milestones. However, within our cohort, 12 patients survived beyond the age of 2 years, and detailed information on 5 patients with prolonged survival (> or =7.5 years) is provided. INTERPRETATION: Biochemical analyses showed that there is a clear correlation between several biochemical parameters and survival of the patient, with C26:0 beta-oxidation activity in cultured skin fibroblasts being the best predictive marker for life expectancy. Remarkably, three patients were identified without biochemical abnormalities in plasma, stressing that D-bifunctional protein deficiency cannot be excluded when all peroxisomal parameters in plasma are normal.
2006
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<a href="http://doi.org/10.1002/ana.20702" target="_blank" rel="noreferrer">10.1002/ana.20702</a>
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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).
Type
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Journal Article
2006
3-Hydroxyacyl CoA Dehydrogenases/deficiency
Annals Of Neurology
Backlog
Barth PG
Blood Chemical Analysis
Boltshauser E
Bone and Bones/anatomy & histology/pathology
Brain/anatomy & histology/pathology
Child
Cohort Studies
Dekker C
Denis S
Duran M
Enoyl-CoA Hydratase/deficiency
Ferdinandusse S
Fibroblasts/cytology/metabolism
Gartner J
Humans
Inborn Errors
Infant
Isomerases/deficiency
Journal Article
Kidney/anatomy & histology/pathology
Life Expectancy
Lipid Metabolism
Liver/anatomy & histology/pathology
Longitudinal Studies
Macaya A
Magnetic Resonance Imaging
Majoie CB
Mooyer PA
Multienzyme Complexes/deficiency
Peroxisomal Disorders/classification/pathology/physiopathology
Poll-The BT
Preschool
Questionnaires
Soorani-Lunsing RJ
Wanders RJ