Inherited metabolic disorders in Turkish patients with autism spectrum disorders.
A quick metabolic lab caught hidden, treatable disorders in 3% of Turkish kids with autism.
01Research in Context
What this study did
Doctors screened 300 Turkish children who already had an autism diagnosis. They ran blood and urine tests to look for hidden inborn metabolic errors.
Families in Turkey often share grandparents, so rare gene problems show up more often. The team wanted to see how many kids had a treatable metabolic disorder that doctors could miss.
What they found
Nine children, about three in every hundred, tested positive for an inherited metabolic disorder. None of these kids had the usual warning signs like low energy or seizures.
Because the disorders were caught early, special diets or vitamins could be started right away. Early treatment may prevent brain stress that can worsen autism features.
How this fits with other research
Nygren et al. (2012) also hunted for early autism clues, but they used nurse eye-gaze checks instead of lab tests. Both studies push for adding a quick screen to routine visits—one behavioral, one metabolic.
Noroozi et al. (2016) and Hranilovic et al. (2016) looked at single genes and DNA tags in mixed populations. Ertugrul’s work widens the lens: even without a known gene change, a simple metabolic panel can find something you can actually treat.
Zamora et al. (2016) showed that culture-smart outreach lifts study sign-ups. The Turkish team likely benefited from the same trust-building in a high-consanguinity community, proving the method travels.
Why it matters
If you assess kids from closely related families, add a metabolic screen to your medical workup. Three percent may win a therapy that eases both autism and medical symptoms. No extra behavior tests, just a lab requisition that can change a child’s path.
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02At a glance
03Original abstract
Autism spectrum disorders (ASDs) are a major health problem because of their high prevalence in the general population. The pathophysiology of ASD remains unclear, although genetic defects may be detected in 10-20% of affected patients. Among these cases, the prevalence of inherited metabolic disorders (IMD) has not been extensively evaluated. IMDs responsible for ASDs are usually identified via clinical manifestations such as microcephaly, dysmorphic features, convulsions, and hepatosplenomegaly. Infrequently, patients with no additional clinical symptoms suggestive of an IMD may be diagnosed as having an idiopathic ASD. High consanguinity rates have resulted in an increased prevalence of IMDs in the Turkish population. The aim of this study was to explore the benefits of systematic screening for IMD among Turkish patients with ASDs. In our study, data were retrospectively collected for 778 children with ASDs. In all cases, the metabolic investigations included an arterial blood gas analysis, serum ammonia and lactate levels, a quantitative plasma amino acid analysis, a whole blood acylcarnitine profile via tandem mass spectrometry and a urine organic acid profile. Urinary glycosaminoglycan levels and homocysteine levels were screened in selected cases; 300 of the 778 patients with ASDs whose physical and metabolic investigations were complete and met this study's criteria were enrolled. Among the 300 children with autism, IMD were diagnosed in nine patients as follows: two patients were diagnosed with phenylketonuria, and one patient was diagnosed with partial biotinidase deficiency; one patient was diagnosed with mucopolysaccharidosis type III, and one patient was diagnosed with classical homocystinuria; one patient was diagnosed with glutaric acidemia type 1, and one patient was diagnosed with short chain acyl-CoA dehydrogenase deficiency; one patient was diagnosed with argininemia, and one patient was diagnosed with L-2-hydroxyglutaric aciduria.
Autism research : official journal of the International Society for Autism Research, 2016 · doi:10.1002/aur.1507