Evidence for Treatable Inborn Errors of Metabolism in a Cohort of 187 Greek Patients with Autism Spectrum Disorder (ASD)
| Autor: | Panagiotis Kardaras, H. Frysira, Zoë D. Théodoridou, Eleni Bonti, Cornelis Jakobs, Ron A. Wevers, A.J. Tsalkidis, D. Asprangathou, Martha Spilioti, A. Haidopoulou, Despoina Tramma, E. Michailidi, K.M. Gibson, S. Metaxas, Athanasios Evangeliou |
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| Přispěvatelé: | Laboratory Medicine, NCA - Brain imaging technology |
| Jazyk: | angličtina |
| Rok vydání: | 2013 |
| Předmět: |
Succinic semialdehyde dehydrogenase deficiency
medicine.medical_specialty Pathology medicine.medical_treatment phenylketonuria Biotin autism Urine Inborn errors of metabolism Gastroenterology lcsh:RC321-571 Excretion Behavioral Neuroscience 3-hydroxyisovaleric acid Internal medicine medicine Original Research Article lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry Biological Psychiatry business.industry succinic semialdehyde dehydrogenase deficiency Lesch-Nyhan disease medicine.disease Psychiatry and Mental health Neuropsychology and Physiological Psychology Neurology Autism spectrum disorder Cohort Autism Lesch–Nyhan syndrome business Ketogenic Diet Ketogenic diet Neuroscience |
| Zdroj: | Frontiers in Human Neuroscience, Vol 7 (2013) Frontiers in Human Neuroscience Frontiers in Human Neuroscience, 7. Frontiers Media S.A. Spilioti, M, Evangeliou, A E, Tramma, D, Theodoridou, Z, Metaxas, S, Michailidi, E, Bonti, E, Frysira, H, Haidopoulou, A, Asprangathou, D, Tsalkidis, A J, Kardaras, P, Wevers, R A, Jakobs, C A J M & Gibson, K M 2013, ' Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD) ', Frontiers in Human Neuroscience, vol. 7, pp. 858 . https://doi.org/10.3389/fnhum.2013.00858 |
| ISSN: | 1662-5161 |
| DOI: | 10.3389/fnhum.2013.00858/full |
| Popis: | We screened for the presence of inborn errors of metabolism (IEM) in 187 children (105 males; 82 females, ages 4–14 years old) who presented with confirmed features of autism spectrum disorder (ASD). Twelve patients (7%) manifested increased 3-hydroxyisovaleric acid (3-OH-IVA) excretion in urine, and minor to significant improvement in autistic features was observed in seven patients following supplementation with biotin. Five diagnoses included: Lesch Nyhan syndrome (2), succinic semialdehyde dehydrogenase (SSADH) deficiency (2), and phenylketonuria (1) (2.7%). Additional metabolic disturbances suggestive of IEMs included two patients whose increased urine 3-OH-IVA was accompanied by elevated methylcitrate and lactate in sera, and 30 patients that showed abnormal glucose-loading tests. In the latter group, 16/30 patients manifested increased sera beta hydroxybutyrate (b-OH-b) production and 18/30 had a paradoxical increase of sera lactate. Six patients with elevated b-OH-b in sera showed improved autistic features following implementation of a ketogenic diet (KD). Five patients showed decreased serum ketone body production with glucose loading. Twelve of 187 patients demonstrated non-specific MRI pathology, while 25/187 had abnormal electroencephalogram (EEG) findings. Finally, family history was positive for 22/187 patients (1st or 2nd degree relative with comparable symptomatology) and consanguinity was documented for 12/187 patients. Our data provide evidence for a new biomarker (3-OH-IVA) and novel treatment approaches in ASD patients. Concise 1 sentence take-home message: Detailed metabolic screening in a Greek cohort of ASD patients revealed biomarkers (urine 3-hydroxyisovaleric acid and serum b-OH-b) in 7% (13/187) of patients for whom biotin supplementation or institution of a KD resulted in mild to significant clinical improvement in autistic features. |
| Databáze: | OpenAIRE |
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