High prevalence of self‐reported autism spectrum disorder in the Propionic Acidemia Registry

Cotrina, Maria Luisa; Ferreiras, Sindy; Schneider, P.

doi:10.1002/jmd2.12083

Cited by 12 publications

(12 citation statements)

References 17 publications

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“…Those behavioral signs are concordant with the higher prevalence of neurodevelopmental disorders in organic acidurias [ 18 ]. Concerning PA, the most frequent disorders are neurodevelopmental disorders from the Autism Spectrum ([ 5 , 21 ]. A case series of 19 patients, aged between 2 and 25 years described 2 patients with typical autism, 2 patients with other autism spectrum disorders and 5 others with a broader autism phenotype (de la [ 3 ]).…”

Section: Introductionmentioning

confidence: 99%

Functional neurologic disorders in an adult with propionic acidemia: a case report

Frismand-Kryloff

Hingray

2021

BMC Psychiatry

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Background Inborn errors of metabolism are often characterized by various psychiatric syndromes. Previous studies tend to classify psychiatric manifestations into clinical entities. Among inborn errors of metabolism, propionic acidemia (PA) is a rare inherited organic aciduria that leads to neurologic disabilities. Several studies in children with PA demonstrated that psychiatric disorders are associated to neurological symptoms. To our knowledge, no psychopathological description in adult with propionic acidemia is available. Case presentation We aimed to compare the case of a 53-year-old woman with PA, to the previous psychiatric descriptions in children with PA and in adults with other inborn errors of metabolism. Our patient presented a large variety of signs: functional neurologic disorders, borderline personality traits (emotional dyregulation, dissociative and alexithymic trends, obsessive-compulsive disorders), occurring in a context of neurodevelopmental disorder. Conclusion Clinical and paraclinical examinations are in favor of a mild mental retardation since childhood and disorders of behavior and personality without any definite psychiatric syndrome, as already described in other metabolic diseases (group 3). Nonetheless, further studies are needed to clarify the psychiatric alterations within adult patients with PA.

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Section: Introductionmentioning

confidence: 99%

Functional neurologic disorders in an adult with propionic acidemia: a case report

Frismand-Kryloff

Hingray

2021

BMC Psychiatry

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“…The improvement found with the low-FODMAP diet—which, unlike the ketogenic diet, was well-tolerated—could also be analyzed on the basis of what was observed in patients suffering from propionic acidosis. This is a genetic disorder characterized by propionate accumulation, which manifests as a delay in neurological development, a high prevalence of ASD (21%) [ 20 ], and mitochondrial dysfunction associated with significant oxidative stress [ 21 ]. It is tempting to say that propionic acid, which is also a product of bacterial metabolism efficiently obtained from fermentable substances such as FODMAPs, could play a very important role in similar neurological and systemic diseases.…”

Section: Discussionmentioning

confidence: 99%

Ketogenic and Low FODMAP Diet in Therapeutic Management of a Young Autistic Patient with Epilepsy and Dysmetabolism Poorly Responsive to Therapies: Clinical Response and Effects of Intestinal Microbiota

Bertuccioli

Cardinali

Pierro

et al. 2022

IJMS

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Autism spectrum disorder (ASD) is often associated with several intestinal and/or metabolic disorders as well as neurological manifestations such as epilepsy (ASD-E). Those presenting these neuropathological conditions share common aspects in terms of gut microbiota composition. The use of microbiota intervention strategies may be an approach to consider in the management of these cases. We describe the case of a 17-year-old girl affected by ASD, reduced growth, neurological development delay, mutations in the PGM1 and EEF1A2 genes (in the absence of clinically manifested disease) and, intestinal disorders such as abdominal pain and diarrhea associated with weight loss. As she demonstrated poor responsiveness to the therapies provided, we attempted two specific dietary patterns: a ketogenic diet, followed by a low fermentable oligosaccharides, disaccharides, monosaccharides and polyols (FODMAP) diet, with the aim of improving her neurological, metabolic, and intestinal symptoms through modulation of the gut microbiota’s composition. The ketogenic diet (KD) provided a reduction in Firmicutes, Bacteroidetes, and Proteobacteria. Although her intestinal symptoms improved, KD was poorly tolerated. On the other hand, the passage to a low FODMAPs diet produced a significant improvement in all neurological, intestinal, and metabolic symptoms and was well-tolerated. The following gut microbiota analysis showed reductions in Actinobacteria, Firmicutes, Lactobacilli, and Bifidobacteria. The alpha biodiversity was consistently increased and the Firmicutes/Bacteroidetes ratio decreased, reducing the extent of fermentative dysbiosis. Gut microbiota could be a therapeutic target to improve ASD-related symptoms. Further studies are needed to better understand the correlation between gut microbiota composition and ASD, and its possible involvement in the physiopathology of ASD.

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“…This was probably mediated by maternal microbiota-derived or -modulated metabolites, such as trimethylamine-N-oxide (TMAO) and imidazole propionate, existing both in maternal blood and in the fetal brain. Also, low levels of fecal butyrate and accumulated propionic acid have been reported to be associated with ASD children (Liu et al, 2019;Cotrina et al, 2020). Prenatal administration of propionic acid may contribute to offspring ASD by altering development and behavior during adolescence (Foley et al, 2014).…”

Section: Autism Spectrum Disordermentioning

confidence: 99%

Microbial regulation of offspring diseases mediated by maternal-associated microbial metabolites

Jiang

Chen

et al. 2022

Front. Microbiol.

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The microbiota plays a crucial role in individuals’ early and long-term health. Previous studies indicated that the microbial regulation of health may start before birth. As the in utero environment is (nearly) sterile, the regulation is probably be originated from maternal microbiota and mediated by their metabolites transferred across the placenta. After the birth, various metabolites are continuously delivered to offspring through human milk feeding. Meanwhile, some components, for example, human milk oligosaccharides, in human milk can only be fermented by microbes, which brings beneficial effects on offspring health. Hence, we speculated that human milk-derived metabolites may also play roles in microbial regulation. However, reports between maternal-associated microbial metabolites and offspring diseases are still lacking and sparsely distributed in several fields. Also, the definition of the maternal-associated microbial metabolite is still unclear. Thus, it would be beneficial to comb through the current knowledge of these metabolites related to diseases for assisting our goals of early prediction, early diagnosis, early prevention, or early treatment through actions only on mothers. Therefore, this review aims to present studies showing how researchers came to the path of investigating these metabolites and then to present studies linking them to the development of offspring asthma, type 1 diabetes mellitus, food allergy, neonatal necrotizing enterocolitis, or autism spectrum disorder. Potential English articles were collected from PubMed by searching terms of disease(s), maternal, and a list of microbial metabolites. Articles published within 5 years were preferred.

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High prevalence of self‐reported autism spectrum disorder in the Propionic Acidemia Registry

Cited by 12 publications

References 17 publications

Functional neurologic disorders in an adult with propionic acidemia: a case report

Functional neurologic disorders in an adult with propionic acidemia: a case report

Ketogenic and Low FODMAP Diet in Therapeutic Management of a Young Autistic Patient with Epilepsy and Dysmetabolism Poorly Responsive to Therapies: Clinical Response and Effects of Intestinal Microbiota

Microbial regulation of offspring diseases mediated by maternal-associated microbial metabolites

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