Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Chronic vitamin E deficiency causes various neurological symptoms such as cerebellar ataxia, hypoesthesia, areflexia, pigmentary retinopathy, nystagmus and muscle weakness. This is commonly caused by malabsorption of vitamin E, which is either a result of malabsorption of fat or occurs as an isolated vitamin E deficiency. The oral vitamin E tolerance test is suitable for the assessment of vitamin E reabsorption and elimination. However, standardised normal parameters have not yet been defined. We investigated 61 healthy individuals aged 18-70 years (mean age, 45.0 years). Each person involved in the trial received 100 IU of all-rac-alpha-tocopherol in 200 millilitres of whole milk. The vitamin E in the serum was then analysed 0, 3, 6, 9, 12, 24, 36, 48, 60, 72 hours after vitamin E was given, using high pressure liquid chromatography. The ratio of vitamin E to the sum of cholesterol and triglycerides was calculated. The 90% CI for the ratio of serum vitamin E to the sum of cholesterol plus triglycerides at the indicated time points was: t = 0 h: 2.0-6.3 micrograms/mg, t = 6 h: 4.2-15.3 micrograms/mg, t = 12 h: 3.0-13.0 micrograms/mg, t = 24 h: 3.8-14.4 micrograms/mg, t = 36 h: 2.9-10.5 micrograms/mg, t = 72 h: 2.1-8.7 micrograms/mg. The serum concentration of vitamin E correlated predominantly with the sum of cholesterol and triglycerides (r = 0.73). The ratio of these parameters is therefore most suitable for diagnosing vitamin E deficiency without relying on false normal serum vitamin E concentrations as a result of abnormally high serum lipid concentrations.
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PMID:[The oral vitamin E tolerance test--an attempt at standardization]. 1044 5

A 15-month-old girl with severe hemolytic anemia and progressive respiratory failure is presented. She was well until the age of six months when she developed a pulmonary infection. During the next six months, she had frequent respiratory infections and her paleness became evident. At the age of 12 months, she was observed to have easy fatigability and muscle weakness, and she received her first blood transfusion. She was referred to our hospital at the age of 15 months. The physical examination revealed a malnourished girl with hypotonia, nystagmus, generalized muscle weakness and severe breathing difficulty requiring ventilatory support The hemoglobin (Hb) was 9.7 g/dl; hematocrit (Hct) 29%, mean corpuscular volume (MCV) 101 fl and reticulocyte count 15%. Peripheral blood smear revealed macrocytosis and stomatocytosis (30% of the red cells) and polychromasia. Sweat chloride test was 90 and 94 mEq/L on two separate occasions. The serum vitamin E level was 0.26 mg/dl (N: 0.44-0.68). She was found to be heterozygous for factor V Leiden mutation. Although malnutrition, low serum vitamin E and elevated sweat chloride test were suggestive of cystic fibrosis, this diagnosis failed to account for all the findings in the patient. A search for a red cell enzyme deficiency revealed that the red cell triosephosphate isomerase (TPI) activity was low. DNA analysis showed the 315 G-C (105 Glu-Asp) TPI mutation, thus confirming the diagnosis of TPI deficiency.
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PMID:Triosephosphate isomerase deficiency with elevated sweat chloride test: report of a case. 1119 50