Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0027497 (nausea)
 23,468 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Mitochondrial myopathy, encephalopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is one of the mitochondrial encephalomyopathies that has distinct clinical features including stroke-like episodes with migraine-like headache, nausea, vomiting, encephalopathy and lactic acidosis. We report a 27-year-old woman who presented with partial seizure, stroke-like episodes including hemiparesis, hemianopia and hemihypethesia, sensorineural hearing loss, migraine-like headache, and lactic acidosis. Brain computed tomographic scan showed encephalomalacia in the right parieto-occipital area and recent hypodensity in the left temporoparieto-occipital area with cortical atrophy. Muscle biopsy revealed ragged-red fibers and paracrystaline inclusions in the mitochondria. Genetic study revealed an A to G point mutation at nucleotide position (np) 3243 of mitochondrial DNA. External ophthalmoplegia and ptosis were also found during two exaggerated episodes in this patient. Therefore, the overlapping syndrome of chronic progressive external ophthalmoplegia in the MELAS syndrome is considered in this case. Furthermore, we also found carnitine deficiency in this patient and she was responsive well to steroid therapy. Muscle biopsy also revealed excessive lipid droplets deposits. Therefore, the carnitine deficiency may occur in MELAS syndrome with the A to G point mutation at np 3243. We recommend the steroid or carnitine supplement therapy be applied to the MELAS syndrome with carnitine deficiency.
 ...
PMID:CPEO and carnitine deficiency overlapping in MELAS syndrome. 748 81

We report a case of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) associated with prosopagnosia, topographical disorientation, and periodic lateralized epileptiform discharge (PLED) on electroencephalography (EEG) in a 23-year-old right-handed man. The first MELAS attack occurred on March 1, 1991, while the patient was drinking. Magnetic resonance imaging (MRI) revealed a lesion of abnormal intensity in the left occipital lobe. The second attack occurred on October 1, 1991. This time, the major symptoms were visual loss of acute onset, nausea, and vomiting. EEG examination showed transient PLED. MRI revealed a new area of abnormal intensity in the right occipital lobe, lingual gyrus, fusiform gyrus and the posterior part of the parahippocampal gyrus. During the clinical course of the patient, prosopagnosia and topographical disorientation appeared. There have been few reports of MELAS associated with prosopagnosia, topographical disorientation, and PLED. However, MELAS attacks tend to occur in the cortex of the occipital lobe. We therefore believe that these neuropsychological symptoms and PLED are likely to be associated with MELAS.
 ...
PMID:[A case of MELAS associated with prosopagnosia, topographical disorientation and PLED]. 783 52

One hundred and eighteen consecutively identified AIDS patients, 88 of whom received zidovudine (1000-1200 mg/day), were followed for 1 year to investigate prospectively the relationship between zidovudine and myopathy. Clinical and biochemical evidence of proximal myopathy was seen in 7 of 41 patients (17%) who had been receiving zidovudine for more than 270 days, but in none of those on short-term therapy and in none of the controls. Serum creatine kinase levels rose a mean of 76 days (range 34-187) before the onset of clinical signs. Creatine kinase returned to normal within 4 weeks of cessation of zidovudine and strength returned within 8 weeks, though loss of muscle bulk persisted. Chronic malaise, anorexia and nausea accompanied the myopathy and remitted within 8 weeks of stopping zidovudine. Muscle histology in four patients with myopathy showed fibre size variation with atrophic, necrotic and degenerating fibres and an absence of inflammation. Ultrastructural studies showed glycogen-packed sarcoplasm, lipid droplets and grossly giant mitochondria. These abnormalities improved substantially after stopping zidovudine. Similar but less marked changes were seen in a zidovudine treated patient without myopathy, but were absent in one AIDS patient not taking the drug. Long-term zidovudine therapy is associated with a mitochondrial myopathy and the constitutional features suggest that it is part of a wider disorder affecting cellular function in other tissues.
 ...
PMID:Mitochondrial myopathy associated with chronic zidovudine therapy in AIDS. 843 50

Two siblings (one man, one woman), presenting with diarrhea, severe weight loss peripheral neuropathy, ophthalmoparesis, asymptomatic leukoencephalopathy were diagnosed as a new cases of Mitochondrial Neuro Gastro Intestinal Encephalomyopathy syndrome (MNGIE). Hirano (1994) defined four criteria for the diagnostic: peripheral neuropathy, ophthalmoparesis, gastro intestinal dysmotility, muscle biopsy with histologic features of mitochondrial myopathy (ragged-red fibers, muscle fibers with increased succinate deshydrogenase stain or ultra structurally abnormal mitochondria). In a review of the literature, we found 31 cases with MNGIE. With our two cases, we study this group of 33 patients. First symptoms begin about 13.5 years with a median of 10 years and extremes for 1 to 32 years. The first signs are gastro intestinal symptoms (recurrent nausea, vomiting or diarrhea with intestinal dysmotility) in 22 cases, an ophthalmoparesia in 4 cases, intestinal and ocular signs in 1 case, gait ataxia or peripheral neuropathy in 3 cases, hearing loss in 1 case, gait ataxia or peripheral neuropathy in 3 cases, hearing loss in 1 case. During the evolution, besides the cardinal signs, the following features have been observed with a variable frequency: hearing loss, short stature, facial palsy, dysphonia, dysarthria, sweating, orthostatic hypotension, bladder dysfunction, hepatomegalia, The laboratory features are: abnormal Nerve Condition Studies/EMG compatible with a sensory motor neuropathy, lactic acidosis, mitochondrial respiratory chain defect (essentially complex IV deficiency, complex I deficiency or multiple complex defect), MRI leukodystrophy, elevated CSF protein, heart block, ragged-red fibers or increased SDH stain. The prognosis is poor, due to a severe weight loss bordering on cachexia 13 patients died with a mean age of 28.5 years (median 24 years, extreme 3 years to 51 years). The prognosis seems to be worsened by a young age of onset. The 33 patients belong to 19 families with 7 cases of consanguinity. 25 patients had a brother, a sister or a cousin affected. The study of these families is compatible with an autosomic recessive transmission, suggesting a pathology of the nuclear genomi, probably impliying the control of the mitochondrial DNA replication. In fact, in 13 cases, a study of the mt DNA was realized: multiple deletions were founded in 6 cases, multiples mutations in one case, unique mutation in 1 case. In 5 cases ther was no evidence of abnormality. These precise etiology and pathophysiologic significance of the mt DNA deletions, and the heterogeneity of the modifications of the mt DNA remain unknown. However, the possibility of various phenotypes for a same genotype or inversely is known in mitochondriopathies.
 ...
PMID:[MNGIE syndrome in 2 siblings]. 968 18

MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) is the most representative subtype of mitochondrial diseases. Administration of L-arginine (L-Arg) or a precursor of nitric oxide (NO) has been proposed as a promising medication for MELAS because one of the pathophysiological mechanisms is supposedly a decreased capacity for NO-dependent vasodilation. We experienced a girl with MELAS and frequent stroke-like episodes who was treated with L-Arg infusion. We evaluated the efficacy of L-Arg infusion therapy based on whether her headache and nausea were disappeared and neurological symptoms were improved within 24 hours of L-Arg administration. L-Arg infusions were effective in all four episodes when the treatment was started within 4 hours of the onset of stroke-like episodes. On the other hand, the infusion was effective in only one out of five episodes when the medication was delayed by more than 4 hours after the onset. Furthermore, the early administration of L-Arg resulted in better outcomes regarding new lesions determined by brain MRI. Our data suggest that L-Arg infusion may be most effective when it is started within 4 hours of the onset of neurological symptoms in the acute phase of MELAS. The study of a large number of episodes in many patients will be needed to determine the critical time point of L-Arg administration after the onset of the acute phase of MELAS.
 ...
PMID:[Determination of the critical time point for efficacy of L-arginine infusion therapy in a case of MELAS with frequent stroke-like episodes]. 2462 Apr 30

A 25-year-old Canadian male with a history of 3-methylglutaconyl-coenzyme-A hydratase deficiency, also known as 3-methylglutaconic aciduria type I, a very rare inborn error of metabolism, presented with respiratory distress, nausea, vomiting and signs of multisystem organ failure due to a suspected underlying infectious process. An electrocardiogram revealed bilateral atrial enlargement and an elevated brain natriuretic peptide on the initial laboratory studies, which prompted a more thorough cardiac workup. The transthoracic echocardiogram revealed a dilated cardiomyopathy with severe systolic dysfunction. The deficient enzyme present in this patient is involved in the pathway of leucine catabolism and is particularly important in various tissues for energy production and sterol synthesis. The dilated cardiomyopathy in this patient possibly had a variety of potential mechanisms including: a mitochondrial myopathy due to the deficiency of this enzyme leading to a defect in energy production inside cardiac myocytes; or a direct toxicity from 3-methylglutaconic acid (3-MGA) and its toxic metabolites; or a cardiac dysfunction due to a variety of other potential mechanisms. In conclusion, this patient's clinical presentation suggested that 3-methylglutaconyl-CoA hydratase deficiency could cause a severe dilated cardiomyopathy and heart failure.
 ...
PMID:3-Methylglutaconyl-Coenzyme-A Hydratase Deficiency and the Development of Dilated Cardiomyopathy. 2834 15