Autism: Screening of inborn errors of metabolism and unexpected results.
Metabolic screening found six treatable inborn errors hiding inside 247 straight-ASD referrals.
01Research in Context
What this study did
Doctors screened 247 children sent to them just for autism.
They ran blood and urine tests for 50 hidden metabolic disorders.
Most families were refugees or related by blood.
What they found
Six kids had a rare inborn error of metabolism.
Their only warning sign had been autism traits.
One child needed a special diet to prevent brain harm.
How this fits with other research
Capio et al. (2013) saw fuzzy brain chemistry in autism, but no clear test.
Aslı et al. now show real metabolic diseases hiding inside ASD referrals.
Naviaux (2026) explains why: a stuck “cell danger” loop can create both problems.
Bent et al. (2009) tried fish-oil pills; this study finds actual diseases to treat.
Why it matters
If you serve refugees or families who marry within the clan, add a metabolic panel to your intake.
Catching a treatable IEM early can spare brain damage and may reduce autism traits.
One extra lab slip could change a child’s life.
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02At a glance
03Original abstract
In this study, the aim was to examine patients with inborn errors of metabolism (IEM) who presented with only autism, without any other findings, to suggest any other neurological and genetic disorders. To investigate IEM, data of the hospital records of 247 patients who were referred from pediatric psychiatric to pediatric metabolism outpatient clinics due to further evaluation of autism spectrum disorders (ASD) were examined. Among them, 237 patients were evaluated for IEM leading to ASDs. Organic acidemias, phenylketonuria, tetrahydrobiopterin and neutrotransmitter disorders, biotinidase deficiency, Smith-Lemni-Opitz syndrome, disorders of cerebral creatine metabolism, urea cycle defects, homocystinuria, purine-pyrimidine metabolism disorders, mitochondrial disorders, cerebrotendinous xantomatosis, mucopolysaccaridosis, and glucose 6 phosphate dehydrogenase deficiency were screened with complete blood counts, complete biochemical analyses, homocysteine levels, an arterial blood gase, and metabolic investigations. Six patients were diagnosed as follows: one with phenylketonuria (PKU), one with cerebral creatine deficiency, one with hypobetalipoproteinemia, one with glycogen storage disease type IX-a, one with dihydropyrimidine dehydrogenase deficiency, and one with succinic semialdehyde dehydrogenase deficiency (SSADHD). Forty-six patients screened for IEM were from consanguineous families, among them, one was diagnosed with FKU and the other was with SSADHD. It would not be expected to find PKU in a 5-year-old patient as a result of newborn screening, but she could not been screened due to being a refugee. The diagnosed diseases were rare presentations of the diseases and furthermore, the diagnosis of hypobetalipoproteinemia and glycogen storage disease type IX-a were surprising with the only presentation of ASDs. LAY SUMMARY: It is well-known that some types of inborn errors of metabolism (IEM) may present with that of autism spectrum disorders (ASDs). This study suggests that in countries where consanguinity marriages are common such as Turkey and refugees whose escaped from neonatal screening are present, patients with ASD should be screened for IEMs. The results can surprise the physicians with a very rare cause of autism that has never been thought. Autism Res 2021, 14: 887-896. © 2021 International Society for Autism Research, Wiley Periodicals LLC.
Autism research : official journal of the International Society for Autism Research, 2021 · doi:10.1002/aur.2486