Developmental evolution in a patient with multiple acyl-coenzymeA dehydrogenase deficiency under pharmacological treatment.

Abstract

PURPOSE:

evaluate the psychomotor evolution of a child with Multiple acyl-CoA dehydrogenase deficiency after treatment with L-carnitine, ubiquinone and riboflavin.

METHODS:

an assessment of psychomotor development was performed before the start of farmacological treatment using the Assessment Scale of Mental Development Griffiths (GMDS-R, 0-2 years). The same assessment was performed after a month and after six months of treatment to evaluate the possible benefits of treatment.

RESULTS:

we noticed a quick and dramatic improvement in muscular tone and motor performances after pharmacological treatment. We also observed a substantial improvement in the personal/social and hearing/language areas, suggesting the presence of intellectual/cognitive improvement. The clinical improvement correlated with the biochemical response.

CONCLUSION:

In our patient early therapy resulted in a optimal response in psychomotor development, motor function and muscole hypotonia. Evaluation with GMDS-R, a simple, non-invasive and multidimensional tool, represents a useful instrument to monitor the clinical response to treatment.

• Authors: M Rosa, A Pascarella, G Parenti, S Buono, A Romano, R Della Casa, G Andria, M Marino, M P Riccio, C Bravaccio
• Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society (Eur J Paediatr Neurol) Vol. 16 Issue 2 Pg. 203-5 (Mar 2012) ISSN: 1532-2130 [Electronic] England
• PMID: 21868270 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2011 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Chemical References

• Vitamins
• Ubiquinone
• Acyl-CoA Dehydrogenase
• Carnitine
• Riboflavin

Topics

• Acidosis (etiology, genetics)
• Acyl-CoA Dehydrogenase (deficiency)
• Amino Acid Metabolism, Inborn Errors (drug therapy, enzymology, pathology)
• Carnitine (therapeutic use)
• Child Development
• Hearing (physiology)
• Humans
• Hypoglycemia (etiology, genetics)
• Infant
• Language Development
• Male
• Muscle Hypotonia (drug therapy, etiology)
• Muscle, Skeletal (pathology)
• Neuropsychological Tests
• Psychomotor Performance (physiology)
• Riboflavin (therapeutic use)
• Social Behavior
• Tandem Mass Spectrometry
• Ubiquinone (therapeutic use)
• Vitamins (therapeutic use)