Exploring congenital sucrase-isomaltase deficiency in autism spectrum disorder patients with irritable bowel syndrome symptoms: A prospective gene sequencing study / Tanyel ZUBARIOGLU ; Dilara Ulgen ; Sedanur Akca-Yesil ; Selin Akbulut ; Huseyin Onay ; Gozde Uzunyayla-Inci ; Omer Faruk Beser ; Ali ?brahim Hatemi ; Çi?dem Aktu?lu-Zeybek ; Ertu?rul Kiykim in Autism Research, 18-1 (January 2025)  

Public ISBD [article]  inAutism Research > 18-1 (January 2025) . - p.44-55 Titre : Exploring congenital sucrase-isomaltase deficiency in autism spectrum disorder patients with irritable bowel syndrome symptoms: A prospective gene sequencing study : Autism Research Type de document : Texte imprimé et/ou numérique Auteurs : Tanyel ZUBARIOGLU, Auteur ; Dilara Ulgen, Auteur ; Sedanur Akca-Yesil, Auteur ; Selin Akbulut, Auteur ; Huseyin Onay, Auteur ; Gozde Uzunyayla-Inci, Auteur ; Omer Faruk Beser, Auteur ; Ali ?brahim Hatemi, Auteur ; Çi?dem Aktu?lu-Zeybek, Auteur ; Ertu?rul Kiykim, Auteur Article en page(s) : p.44-55 Langues : Anglais (eng) Mots-clés : autism spectrum disorder  CSID  heterozygous  prospective screening  SI gene Index. décimale : PER Périodiques Résumé : Abstract Congenital sucrase-isomaltase deficiency (CSID) is an inherited metabolic disorder causing chronic gastrointestinal symptoms and malnutrition when untreated. Most CSID patients are likely to remain under- or misdiagnosed. This study aimed to investigate prevalence of CSID among patients with autism spectrum disorder (ASD) presenting with irritable bowel syndrome (IBS) symptoms via prospective SI gene sequencing. A prospective cross-sectional study was conducted on 98 ASD patients exhibiting gastrointestinal symptoms consistent with IBS. Participants were assessed according to Rome IV criteria and underwent SI gene sequencing. Demographic, clinical, and dietary data were collected and analyzed. Sucrose content in various fruits and vegetables was evaluated using three-day food record, and gastrointestinal symptoms were rated on Likert scale. Seven patients (7%) were diagnosed with CSID based on SI gene analysis, revealing six different variants, including four novel mutations. One patient was homozygous for one variant, and six patients were heterozygous. Clinical presentations predominantly included diarrhea, abdominal pain, and bloating, with two patients showing growth retardation. One patient was diagnosed in adulthood. Food allergy and lactose intolerance were the misdiagnoses prior to CSID diagnosis in two patients. Real prevalence of CSID is likely underestimated. Clinical heterogeneity and non-specific symptoms contribute to diagnostic challenges. Gastrointestinal symptoms consistent with IBS in ASD patients should include CSID in differential diagnosis. Early genetic screening for SI variants in ASD patients with IBS symptoms can facilitate timely diagnosis and management, improving outcomes. Heterozygous variants of the SI gene should also be considered, as heterozygous patients can exhibit typical CSID symptoms. En ligne : https://doi.org/10.1002/aur.3293 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=546 [article] Exploring congenital sucrase-isomaltase deficiency in autism spectrum disorder patients with irritable bowel syndrome symptoms: A prospective gene sequencing study : Autism Research [Texte imprimé et/ou numérique] / Tanyel ZUBARIOGLU, Auteur ; Dilara Ulgen, Auteur ; Sedanur Akca-Yesil, Auteur ; Selin Akbulut, Auteur ; Huseyin Onay, Auteur ; Gozde Uzunyayla-Inci, Auteur ; Omer Faruk Beser, Auteur ; Ali ?brahim Hatemi, Auteur ; Çi?dem Aktu?lu-Zeybek, Auteur ; Ertu?rul Kiykim, Auteur . - p.44-55. Langues : Anglais (eng) in Autism Research > 18-1 (January 2025) . - p.44-55 Mots-clés : autism spectrum disorder  CSID  heterozygous  prospective screening  SI gene Index. décimale : PER Périodiques Résumé : Abstract Congenital sucrase-isomaltase deficiency (CSID) is an inherited metabolic disorder causing chronic gastrointestinal symptoms and malnutrition when untreated. Most CSID patients are likely to remain under- or misdiagnosed. This study aimed to investigate prevalence of CSID among patients with autism spectrum disorder (ASD) presenting with irritable bowel syndrome (IBS) symptoms via prospective SI gene sequencing. A prospective cross-sectional study was conducted on 98 ASD patients exhibiting gastrointestinal symptoms consistent with IBS. Participants were assessed according to Rome IV criteria and underwent SI gene sequencing. Demographic, clinical, and dietary data were collected and analyzed. Sucrose content in various fruits and vegetables was evaluated using three-day food record, and gastrointestinal symptoms were rated on Likert scale. Seven patients (7%) were diagnosed with CSID based on SI gene analysis, revealing six different variants, including four novel mutations. One patient was homozygous for one variant, and six patients were heterozygous. Clinical presentations predominantly included diarrhea, abdominal pain, and bloating, with two patients showing growth retardation. One patient was diagnosed in adulthood. Food allergy and lactose intolerance were the misdiagnoses prior to CSID diagnosis in two patients. Real prevalence of CSID is likely underestimated. Clinical heterogeneity and non-specific symptoms contribute to diagnostic challenges. Gastrointestinal symptoms consistent with IBS in ASD patients should include CSID in differential diagnosis. Early genetic screening for SI variants in ASD patients with IBS symptoms can facilitate timely diagnosis and management, improving outcomes. Heterozygous variants of the SI gene should also be considered, as heterozygous patients can exhibit typical CSID symptoms. En ligne : https://doi.org/10.1002/aur.3293 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=546

Inherited metabolic disorders in Turkish patients with autism spectrum disorders / Ertugrul KIYKIM in Autism Research, 9-2 (February 2016)  

Public ISBD [article]  inAutism Research > 9-2 (February 2016) . - p.217-223 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 [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

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