title: Developmental evolution in a patient with multiple acyl-coenzymeA dehydrogenase deficiency under pharmacological treatment.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.affiliation: Department of Pediatrics, University Federico II of Naples, Via Pansini 5, 80131 Naples, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Rosa
authors.forename: A
authors.initials: A
authors.lastname: Pascarella
authors.forename: G
authors.initials: G
authors.lastname: Parenti
authors.forename: S
authors.initials: S
authors.lastname: Buono
authors.forename: A
authors.initials: A
authors.lastname: Romano
authors.forename: R
authors.initials: R
authors.lastname: Della Casa
authors.forename: G
authors.initials: G
authors.lastname: Andria
authors.forename: M
authors.initials: M
authors.lastname: Marino
authors.forename: M P
authors.initials: MP
authors.lastname: Riccio
authors.forename: C
authors.initials: C
authors.lastname: Bravaccio
mesh_terms: D000138:Acidosis / Q000209:etiology / Q000235:genetics; D042964:Acyl-CoA Dehydrogenase / Q000172:deficiency*; D000592:Amino Acid Metabolism, Inborn Errors / Q000188:drug therapy* / Q000201:enzymology / Q000473:pathology; D002331:Carnitine / Q000627:therapeutic use; D002657:Child Development; D006309:Hearing / Q000502:physiology; D006801:Humans; D007003:Hypoglycemia / Q000209:etiology / Q000235:genetics; D007223:Infant; D007804:Language Development; D008297:Male; D009123:Muscle Hypotonia / Q000188:drug therapy / Q000209:etiology; D018482:Muscle, Skeletal / Q000473:pathology; D009483:Neuropsychological Tests; D011597:Psychomotor Performance / Q000502:physiology; D012256:Riboflavin / Q000627:therapeutic use; D012919:Social Behavior; D053719:Tandem Mass Spectrometry; D014451:Ubiquinone / Q000627:therapeutic use; D014815:Vitamins / Q000627:therapeutic use
chemical_list: D014815:Vitamins; D014451:Ubiquinone; D042964:Acyl-CoA Dehydrogenase; D002331:Carnitine; D012256:Riboflavin