Journal article
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.858-858
2013
Handle:
https://hdl.handle.net/2376/105445
PMID: 24399946
Abstract
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.
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Details
- Title
- Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD)
- Creators
- Martha Spilioti - First Department of Neurology, AHEPA Hospital, Aristotle University of ThessalonikiAthanasios E Evangeliou - Fourth Department of Pediatrics, Papageorgiou Hospital, Aristotle University of ThessalonikiDespoina Tramma - Fourth Department of Pediatrics, Papageorgiou Hospital, Aristotle University of ThessalonikiZoe Theodoridou - Department of Special Educational Needs, St. Luke's HospitalSpyridon Metaxas - Second ENT Department, Papageorgiou Hospital, Aristotle University of ThessalonikiEleni Michailidi - Department of Pediatrics, Medical School, University of CreteEleni Bonti - Department of Pediatrics, Papageorgiou Hospital, Aristotle University of ThessalonikiHelen Frysira - Department of Pediatrics, Athens University Medical School, Agia Sophia Children's HospitalA Haidopoulou - Fourth Department of Pediatrics, Papageorgiou Hospital, Aristotle University of ThessalonikiDespoina Asprangathou - Fourth Department of Pediatrics, Papageorgiou Hospital, Aristotle University of ThessalonikiAggelos J Tsalkidis - Department of Pediatrics, Medical School, University of ThracePanagiotis Kardaras - Third Department of Pediatrics, Hippokration Hospital, Aristotle University of ThessalonikiRon A Wevers - Laboratory of Genetic, Endocrine and Metabolic Diseases, Department of Laboratory Medicine, RUNMCCornelis Jakobs - Metabolic Unit, Department of Clinical Chemistry, VU University Medical CenterK. Michael Gibson - Section of Clinical Pharmacology, College of Pharmacy, Washington State University
- Publication Details
- Frontiers in human neuroscience, Vol.7, pp.858-858
- Academic Unit
- Pharmacotherapy, Department of
- Publisher
- Frontiers Media S.A
- Identifiers
- 99900546977501842
- Language
- English
- Resource Type
- Journal article