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Cases of inborn errors of metabolism diagnosed in children with autism
Nafiye Emel Cakar1, Pınar Yilmazbas2
1Health Science University, Prof. Dr. Cemil Taşcıoğlu City Hospital, Department of Pediatric Metabolism, Istanbul, Turkey.
Insights
Inborn errors of metabolism can rarely manifest as autism spectrum disorder symptoms. Early metabolic investigations in autism patients may reveal treatable causes.
Area of Science:
- Neurodevelopmental Disorders
- Metabolic Disorders
- Pediatric Medicine
Background:
- Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with unknown etiology.
- Increasing recognition of comorbidities highlights the link between ASD and inborn errors of metabolism (IEMs).
Purpose of the Study:
- To investigate the frequency of inborn errors of metabolism in children diagnosed with autism spectrum disorder.
- To assess the diagnostic yield of metabolic investigations in this patient population.
Main Methods:
- Retrospective analysis of 179 patients diagnosed with ASD who attended a Pediatric Metabolism outpatient clinic.
- Review of patient information, routine, and specific metabolic tests.
Main Results:
- Out of 3261 patients, 179 (5.48%) were diagnosed with ASD.
- Specific metabolic investigations identified IEMs in 6 patients (3.3% of ASD cohort).
- Diagnosed IEMs included classical phenylketonuria, classical homocystinuria, mucopolysaccharidosis type 3D, and 3-methylcrotonyl-CoA carboxylase deficiency.
Conclusions:
- IEMs can be a rare, treatable cause of ASD symptoms.
- Clinical evaluation and targeted metabolic testing are crucial for identifying underlying IEMs in ASD patients.
Background And Purpose:
Autism spectrum disorder is a neurodevelopmental disorder with a heterogeneous presentation, the etiology of which is not clearly elucidated. In recent years, comorbidity has become more evident with the increase in the frequency of autism and diagnostic possibilities of inborn errors of metabolism.
Methods:
One hundred and seventy-nine patients with diagnosis of autism spectrum disorder who presented to the Pediatric Metabolism outpatient clinic between 01/September/2018-29/February/2020 constituted the study population. The personal information, routine and specific metabolic tests of the patients were analyzed retrospectively.
Results:
Out of the 3261 patients who presented to our outpatient clinic, 179 (5.48%) were diagnosed with autism spectrum disorder and were included in the study. As a result of specific metabolic examinations performed, 6 (3.3%) patients were diagnosed with inborn errors of metabolism. Two of our patients were diagnosed with classical phenylketonuria, two with classical homocystinuria, one with mucopolysaccharidosis type 3D (Sanfilippo syndrome) and one with 3-methylchrotonyl Co-A carboxylase deficiency.
Conclusion:
Inborn errors of metabolism may rarely present with autism spectrum disorder symptoms. Careful evaluation of the history, physical examination and additional findings in patients diagnosed with autism spectrum disorder will guide the clinician in the decision-making process and chose the appropriate specific metabolic investigation. An underlying inborn errors of metabolism may be a treatable cause of autism.
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