Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The autistic spectrum disorder (ASD) is a neurodevelopmental disorder characterized by socially aloof behavior and impairment of language and social interaction. This paper is a review of literature on gastrointestinal problems in children with ASD. Gastrointestinal symptoms are described in 9-54% of autistic children, among which most common are: constipation, diarrhea and abdominal distension. The gastro-intestinal abnormalities reported in autism include: inflammation (esophagitis, gastritis, duodenitis, enterocolitis) with or without autoimmunity, lymphoid nodular hyperplasia, increased intestinal permeability, low activities of disaccharidase enzymes, impairment of detoxification (e.g. defective sulfation of ingested phenolic amines), dysbiosis with bacterial overgrowth, food intolerance or exorphin intoxication (by opioid derived from casein and gluten). A beneficial effect of dietary intervention on behavior and cognition of some autistic children indicates a functional relationship between the alimentary tract and the central nervous system. There are no epidemiologic data concerning the incidence or prevalence of gastrointestinal problems within the population of children with ASD in comparison to the population of non-ASD children.
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PMID:[Gastrointestinal abnormalities in children with autism]. 1965 Apr 28

Recently, mutations in the zinc finger MYND-type containing 11 (ZMYND11) gene were identified in patients with autism spectrum disorders, intellectual disability, aggression, and complex neuropsychiatric features, supporting that this gene is implicated in 10p15.3 microdeletion syndrome. We report a novel de novo variant in the ZMYND11 gene (p.Ser421Asn) in a patient with a complex neurodevelopmental phenotype. The patient is a 24-yr-old Caucasian/Filipino female with seizures, global developmental delay, sensorineural hearing loss, hypotonia, dysmorphic features, and other features including a happy disposition and ataxic gait similar to Angelman syndrome. In addition, this patient had uncommon features including eosinophilic esophagitis and multiple, severe allergies not described in similar ZMYND11 cases. This new case further supports the association of ZMYND11 with autistic-like phenotypes and suggests that ZMYND11 should be included in the list of potentially causative candidate genes in cases with complex neurodevelopmental phenotypes.
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PMID:A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia. 2762 64

Starting with a brief history of beriberi and the discovery that thiamin deficiency is its cause, the symptoms and signs are reviewed. None are pathognomonic. The disease has a low mortality and a long morbidity. The appearance of the patient can be deceptive, often being mistaken for psychosomatic disease in the early stages. The chemistry of thiamin and the laboratory methodology for depicting its deficiency are outlined. The diseases associated with thiamin deficiency, apart from malnutrition, include a number of genetically determined conditions where mutations, either in the cofactor relationship or a transporter, provide the etiology. It is emphasized that such mutations are often epigenetically responsive to megadoses of thiamin or one of its derivatives. The use of thiamin in clinical practice requires a high index of suspicion on the part of the clinician since it has a part to play in eating disorders, diabetes, neurodegenerative disease, and cancer. A high rate of critical illness and postsurgery thiamin deficiency have been reported, particularly those associated with gastrointestinal bypass. Emphasis is placed on thiamin deficiency as a major cause of asymmetric dysautonomia, because of the high degree of sensitivity to thiamin deficiency in the brainstem, cerebellum, and hypothalamus. The relationship of thiamin with regional pain syndrome, eosinophilic esophagitis, its analgesic capacity, and its preventive use in obstetrics is raised as a potential issue. The role of thiamin in SIDS and autism is outlined. It is emphasized that megadose thiamin is being used as a drug, either in stimulating the damaged cofactor/enzyme combination, or mitochondria.
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PMID:Thiamin. 2947 20

This is a case report of chronic esophagitis and gastritis following the ingestion of box jellyfish (Alatina alata) by a 12-year old boy with severe autism spectrum disorder and pica. Biopsies taken at esophagogastroduodenoscopy at two months post ingestion revealed histological evidence of esophagitis and gastritis, which resolved after treatment with H2 receptor agonist and proton pump inhibitor.
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PMID:Chronic Esophagitis and Gastritis After Ingestion of Box Jellyfish (Class Cubozoa). 3249 Apr 1