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Autism: Screening of inborn errors of metabolism and unexpected results / Asl? ?NCI in Autism Research, 14-5 (May 2021)
[article]
Titre : Autism: Screening of inborn errors of metabolism and unexpected results Type de document : Texte imprimé et/ou numérique Auteurs : Asl? ?NCI, Auteur ; Ahmet ÖZASLAN, Auteur ; ?lyas OKUR, Auteur ; Gürsel BIBEROGLU, Auteur ; Esra GUNEY, Auteur ; Fatih Süheyl EZGÜ, Auteur ; Leyla TÜMER, Auteur ; Elvan ISERI, Auteur Article en page(s) : p.887-896 Langues : Anglais (eng) Mots-clés : autism consanguineous marriages inborn errors of metabolism metabolic screening unexpected results Index. décimale : PER Périodiques Résumé : 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. En ligne : http://dx.doi.org/10.1002/aur.2486 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=444
in Autism Research > 14-5 (May 2021) . - p.887-896[article] Autism: Screening of inborn errors of metabolism and unexpected results [Texte imprimé et/ou numérique] / Asl? ?NCI, Auteur ; Ahmet ÖZASLAN, Auteur ; ?lyas OKUR, Auteur ; Gürsel BIBEROGLU, Auteur ; Esra GUNEY, Auteur ; Fatih Süheyl EZGÜ, Auteur ; Leyla TÜMER, Auteur ; Elvan ISERI, Auteur . - p.887-896.
Langues : Anglais (eng)
in Autism Research > 14-5 (May 2021) . - p.887-896
Mots-clés : autism consanguineous marriages inborn errors of metabolism metabolic screening unexpected results Index. décimale : PER Périodiques Résumé : 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. En ligne : http://dx.doi.org/10.1002/aur.2486 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=444 Inherited metabolic disorders in Turkish patients with autism spectrum disorders / Ertugrul KIYKIM in Autism Research, 9-2 (February 2016)
[article]
Titre : Inherited metabolic disorders in Turkish patients with autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : Ertugrul KIYKIM, Auteur ; Cigdem Aktuglu ZEYBEK, Auteur ; Tanyel ZUBARIOGLU, Auteur ; Serif CANSEVER, Auteur ; Cengiz YALCINKAYA, Auteur ; Erdogan SOYUCEN, Auteur ; Ahmet AYDIN, Auteur Article en page(s) : p.217-223 Langues : Anglais (eng) Mots-clés : inherited metabolic disorders autism spectrum disorders metabolic screening incidence Index. décimale : PER Périodiques Résumé : 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. En ligne : http://dx.doi.org/10.1002/aur.1507 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=282
in Autism Research > 9-2 (February 2016) . - p.217-223[article] Inherited metabolic disorders in Turkish patients with autism spectrum disorders [Texte imprimé et/ou numérique] / Ertugrul KIYKIM, Auteur ; Cigdem Aktuglu ZEYBEK, Auteur ; Tanyel ZUBARIOGLU, Auteur ; Serif CANSEVER, Auteur ; Cengiz YALCINKAYA, Auteur ; Erdogan SOYUCEN, Auteur ; Ahmet AYDIN, Auteur . - p.217-223.
Langues : Anglais (eng)
in Autism Research > 9-2 (February 2016) . - p.217-223
Mots-clés : inherited metabolic disorders autism spectrum disorders metabolic screening incidence Index. décimale : PER Périodiques Résumé : 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. En ligne : http://dx.doi.org/10.1002/aur.1507 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=282 Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders / M. E. MÁRQUEZ-CARAVEO in Journal of Autism and Developmental Disorders, 51-6 (June 2021)
[article]
Titre : Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders Type de document : Texte imprimé et/ou numérique Auteurs : M. E. MÁRQUEZ-CARAVEO, Auteur ; I. IBARRA-GONZÁLEZ, Auteur ; R. RODRÍGUEZ-VALENTÍN, Auteur ; Miguel Ángel RAMÍREZ-GARCÍA, Auteur ; V. PÉREZ-BARRÓN, Auteur ; E. LAZCANO-PONCE, Auteur ; M. VELA-AMIEVA, Auteur Article en page(s) : p.2124-2131 Langues : Anglais (eng) Mots-clés : Adolescent Autism Spectrum Disorder/complications Child Delayed Diagnosis/statistics & numerical data Female Humans Male Metabolism, Inborn Errors/diagnosis/epidemiology/psychology Mexico/epidemiology Neurodevelopmental Disorders/complications Tandem Mass Spectrometry/methods Autism spectrum disorders Inborn errors of metabolism Intellectual disabilities Metabolic screening Neurodevelopmental disorders Index. décimale : PER Périodiques Résumé : The objective of our study was to evaluate the frequency of treatable inborn errors of metabolism (IEM) in a clinical sample of Mexican children and adolescents with neurodevelopmental disorders (NDD). Amino acids and acylcarnitines in blood samples of 51 unrelated children and adolescents were analyzed by tandem mass spectrometry to detect treatable IEM of small molecules. One patient with isovaleric acidemia and autism spectrum disorder (ASD) and another with beta-ketothiolase deficiency and ASD/intellectual disability/attention-deficit/hyperactivity disorder (ADHD) were diagnosed, indicating an IEM frequency of 3.9% (1:26 subjects). The high frequency of treatable IEM indicates the need to perform a minimum metabolic screening as part of the diagnostic approach for patient with NDD, particularly when newborn screening programs are limited to a few disorders. En ligne : http://dx.doi.org/10.1007/s10803-020-04682-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=452
in Journal of Autism and Developmental Disorders > 51-6 (June 2021) . - p.2124-2131[article] Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders [Texte imprimé et/ou numérique] / M. E. MÁRQUEZ-CARAVEO, Auteur ; I. IBARRA-GONZÁLEZ, Auteur ; R. RODRÍGUEZ-VALENTÍN, Auteur ; Miguel Ángel RAMÍREZ-GARCÍA, Auteur ; V. PÉREZ-BARRÓN, Auteur ; E. LAZCANO-PONCE, Auteur ; M. VELA-AMIEVA, Auteur . - p.2124-2131.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 51-6 (June 2021) . - p.2124-2131
Mots-clés : Adolescent Autism Spectrum Disorder/complications Child Delayed Diagnosis/statistics & numerical data Female Humans Male Metabolism, Inborn Errors/diagnosis/epidemiology/psychology Mexico/epidemiology Neurodevelopmental Disorders/complications Tandem Mass Spectrometry/methods Autism spectrum disorders Inborn errors of metabolism Intellectual disabilities Metabolic screening Neurodevelopmental disorders Index. décimale : PER Périodiques Résumé : The objective of our study was to evaluate the frequency of treatable inborn errors of metabolism (IEM) in a clinical sample of Mexican children and adolescents with neurodevelopmental disorders (NDD). Amino acids and acylcarnitines in blood samples of 51 unrelated children and adolescents were analyzed by tandem mass spectrometry to detect treatable IEM of small molecules. One patient with isovaleric acidemia and autism spectrum disorder (ASD) and another with beta-ketothiolase deficiency and ASD/intellectual disability/attention-deficit/hyperactivity disorder (ADHD) were diagnosed, indicating an IEM frequency of 3.9% (1:26 subjects). The high frequency of treatable IEM indicates the need to perform a minimum metabolic screening as part of the diagnostic approach for patient with NDD, particularly when newborn screening programs are limited to a few disorders. En ligne : http://dx.doi.org/10.1007/s10803-020-04682-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=452