Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004135 (ATM)
 13,001 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Forty-eight cases of chronic diarrhoea in children seen at King Khalid University Hospital over a 5-year period were analysed. The mean age at presentation was 1.8 years (range 0.08-10 years); 34 were boys and 14 girls. Forty-four patients were Saudi and four were non-Saudi Arabs. Most children presented with failure to thrive and pallor. The aetiological factors identified were: the post-gastro-enteritis syndrome with or without lactose intolerance in 16 (33%); coeliac disease in ten (21%); congenital chloride diarrhoea in five (10%); glucose-galactose malabsorption and acrodermatitis enteropathica, each in three (6%); ulcerative colitis, intestinal lymphangiectasia, cow's milk protein intolerance and ataxia telangiectasia, each in two (4%); and giardiasis, immune deficiency and cystic fibrosis, each in one (2%). Five children died.
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PMID:Aetiology of chronic diarrhoea in children: experience at King Khalid University Hospital, Riyadh, Saudi Arabia. 752 25

At least four disorders, ataxia telangiectasia (AT), an ataxia-telangiectasia-like disorder, early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH)/ ataxia with oculomotor apraxia type 1 (AOA1), and ataxia with oculomotor apraxia type 2, are accompanied by ocular motor apraxia (OMA), which is an impairment of saccadic eye movement initiation. The characteristic pathological findings of EAOH/AOA1 and AT are a severe loss of Purkinje cells, severe myelin pallor of the posterior columns, and moderate neuronal loss in the dorsal root ganglia and anterior horn. Purkinje cells stimulate the fastigial nucleus and suppress omnipause neurons to initiate saccadic eye movement. The selective loss of Purkinje cells might cause OMA and disturb the cancellation of the vestibulo-ocular reflex. These disorders have the following common clinical features: ataxia, involuntary movements, and peripheral neuronopathy. In addition, the causative genes for these disorders are associated with the DNA/RNA quality control system. The impairment of DNA/ RNA integrity results in selective neuronal loss in these recessive-inherited ataxias.
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PMID:Spinocerebellar ataxia with ocular motor apraxia and DNA repair. 1696 Oct 74