Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:4.1.2.13 (aldolase)
 3,461 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A rare case of myotonic dystrophy with mechanical derangement in a 48-year-old male is reported. The patient was admitted to Fuzisawa City Hospital because of chest discomfort. On physical examination, he had the typical facial appearance of myotonic dystrophy, and displayed grip myotonia. The blood pressure was 120/60 mmHg and the pulse 51, regular. A systolic ejection murmur at the cardiac base, an early diastolic blowing murmur along the left sternal border, and a pansystolic murmur at the apex were heard. The deep tendon reflexes were all normal. Elevation of serum creatine kinase and aldolase were noted. Chest X-ray films suggested moderate cardiomegaly. An electrocardiogram showed sinus bradycardia, atrioventricular block and left bundle branch block, suggesting diffuse involvement of the conduction system. An echocardiography confirmed the presence of left ventricular enlargement, thickened aortic valves, mitral regurgitation, and aortic regurgitation. Selective coronary angiography revealed no abnormalities. Left ventriculography demonstrated diffuse hypokinesis of the entire ventricle. Light microscopy of biopsied right myocardium revealed prominent interstitial fatty infiltration, mild interstitial fibrosis, and variation in the nuclear size. A 22-year-old son also had myotonic dystrophy and had an echocardiography indicative of thickened valves with aortic regurgitation. Myotonic dystrophy is a autosomal dominant disease. Cardiac involvement selectively disturbs the conduction system, sinus node, and to a lesser extent myocardium. Although the presence of aortic regurgitation could be a mere coincidence, we believe that this did not occur by accident, because the patient's son also had aortic regurgitation.
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PMID:[A case of myotonic dystrophy associated with intracardiac conduction abnormalities and aortic regurgitation]. 237 32

In spring 1981, thousands of people living in Madrid were intoxicated by adulterated edible oil containing oleoanilide and probably other toxic substances. Due to increasing international travel Swiss doctors may also be faced with this particular disease. The case is reported of a 28-year-old woman who presented in May 1981 with a highly febrile influenza-like syndrome after consuming the adulterated oil while in Madrid. In the following weeks she developed myopathy, characterized by muscular weakness and pain, aldolase elevation and typical electromyographic disturbances, as well as edema and general discomfort. The white cell count showed eosinophilia up to 2170/mm3. Five months later, the symptoms are still continuing. Other members of the family have been exposed to the oleoanilide and exhibited various abnormalities which constitute a new clinical syndrome different from previously reported intoxications by industrial oil.
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PMID:[Poisoning by adulterated edible oil]. 732 94

Hereditary fructose intolerance (HFI) is an autosomal recessive disease caused by catalytic deficiency of aldolase B (fructose-1, 6-bisphosphate aldolase). Herein we report on a case of hereditary fructose intolerance with initial presentation of episodic unconsciousness, seizure, hypoglycemia, hepatomegaly, and abnormal liver function since the patient was 11 months old. She was diagnosed as Reye's-like syndrome according to a liver biopsy done at 20 months of age. As she grew up, cold sweating, abdominal pain or gastrointestinal discomfort shortly after the intake of fruits was noted and she developed an aversion to fruits, vegetables and sweet-tasting foods. At 9 years of age, a fructose tolerance test signified a positive result that induced hypoglycemia, transient hypophosphatemia, hyperuricaemia, elevation of serum magnesium, and accumulation of lactic acid. Appropriate dietary management and precautions were recommended. The patient has been symptom-free and exhibited normal growth and development when followed up to 12 years of age.
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PMID:Hereditary fructose intolerance presenting as Reye's-like syndrome: report of one case. 1102 Oct 9