Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0004352 (
autism
)
32,579
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Autism
is a neurodevelopmental disorder characterized by a pattern of social and communication deficits. Although it occurs in all cultures and countries, most of the published research has come from Western industrialized countries. In particular, relatively little is known about its clinical correlates and comorbidity in African and Middle Eastern countries. In this paper, we report two cases of
G6PD deficiency
with
autism
, recruited as part of a larger study on the occurrence of
autism
in Saudi Arabia. These findings suggest that a different set of medical conditions may be associated with
autism
in developing countries.
...
PMID:G6PD deficiency in autism: a case-series from Saudi Arabia. 1881 Mar 8
Autism spectrum disorder (ASD) is a category of neurodevelopmental disorders characterized by social and communication impairment and restricted or repetitive behaviors. The pathogenesis of ASD is not well understood and it's proved that genetic is strongly associated with ASD in 5 to 25% of cases. Inborn errors of metabolism(IEMs), defined by a vast array of disorders that are caused by specific enzyme deficiencies or transport protein defects, is as frequent as in 1 in 800 births. IEMs can manifest several psychiatric or behavioral manifestations such as self-injuriesincreased activity and aggression, personality changes, paranoia, depression, catatonia, and psychosis. IEMs underlie autistic symptoms in less than 5% of cases. The literature on the association between ASD and respiratory chain abnormalities is growing, including complex III/IV deficiency and MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes) syndrome, as well as
glucose-6-phosphate dehydrogenase deficiency
. Google Scholar, Pubmed, and SCOPUS databases were searched using a combination of the following keywords: "autism spectrum disorder", "autism spectrum", "autistic feature" and "inborn error of metabolism", " IEM", "congenital error of metabolism". Initially, 655 articles were found and our expert and methodologist altogether selected 187 articles based on the titles, relevance, and text language. After reading full texts, 37 studies were selected for review. We think it's best to consider IEMs in children with syndromic ASD and/or if there is a strong familial history of
autism
or parental consanguineous marriage.
...
PMID:Autistic feature as a presentation of Inborn Errors of Metabolism. 3319 81