Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The ratio of mtDNA and a nuclear reference gene was estimated by Southern blotting in the skeletal muscle DNA of a 3-year-old girl who suffered from congenital brain damage, focal epilepsy, hepatomegaly, malabsorption syndrome and severe myopathy. The signal ratio of mtDNA versus 18S rDNA was 22% of the mean value obtained from controls. No major deletions or insertions were found and the MERRF, MELAS and NARP mutations were ruled out. Mitochondrial DNA-encoded enzyme activities and mitochondrial respiration were reduced. The analysis of the NAD(P)H and flavoprotein redox states of intact fibres revealed the presence of mitochondrial dysfunction. In tissue sections a moderate elevation of type I and type II fibre diameter variation was detected, aberrant NADH- and succinate dehydrogenase staining and some ragged red fibres. This suggested that a mitochondrial disorder caused by a decrease in the amount of intact wild-type mtDNA was responsible for the severe myopathy.
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PMID:mtDNA depletion and impairment of mitochondrial function in a case of a multisystem disorder including severe myopathy. 970 May 97

Mitochondrial disease results from alteration in genes that control mitochondrial function. Patients with this disease present with multisystem organ involvement that may include gastrointestinal (GI) tract dysfunction, including obstruction, pseudo obstruction, bowel infarction and malabsorption syndromes. For this reason, care of this population may require long-term central intravenous (IV) access for administration of hyperalimentation, fluid, medications and blood products. Additionally, these patients may be immunosuppressed and at risk of sepsis. With vulnerability across many organ systems, symptom exacerbation can result from any physiological, psychological, or environmental stressor. There is no cure for mitochondrial disease, and quality-of-life goals are paramount. If GI tract dysfunction develops, treatment may require high-acuity level home care that includes the use of a central IV access device. This article presents an overview of this challenging population, and a plan for safe and effective central IV access care.
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PMID:Long-term central IV access in patients with mitochondrial disease. 2476 70