Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three patients suffering from the neonatal form of a syndrome characterized by congenital cataract, hypertrophic cardiomyopathy, and mitochondrial myopathy are described. The patients died at 7, 10 and 18 days, respectively from cardiorespiratory failure. Mitochondrial abnormalities were observed in the heart and skeletal muscle. Despite the presence of a severe lactic acidaemia pointing to a disturbed pyruvate oxidation rate in vivo, a normal pyruvate oxidation rate was demonstrated in skeletal muscle homogenates. The activities of several enzymes of the mitochondrial respiratory chain appeared to be normal, indicating an intact respiratory chain. A myoglobinopenia could be excluded. The activities of some mitochondrial enzymes and the concentration of myoglobin increase with age.
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PMID:Fatal neonatal cardiomyopathy associated with cataract and mitochondrial myopathy. 274 41

A 4 1/2 months old female baby was admitted to our hospital after an unexpected heart attack. Birth was in the 37th gestational week after an uneventful pregnancy and delivery by sectio, birth weight 1650 g, Apgar 9/10/10. In the following weeks the baby showed general muscle hypotonia, failure to thrive and sometimes an uncharacteristic heart murmur. Besides a chronic lactic acidemia we found a hypertrophic cardiomyopathy, cataract and small defects of the pigment epithelium of the retina. The CT-scan of the brain showed hypodense areas of both thalami and the mid-brain. Metabolic examination of two muscle specimens showed a deficiency of cytochrome-c-oxidase activity (I: 30, II: 20, normal: 73-284 mU/mg protein). So our patient may be the first case with an established defect in the respiratory chain suffering from cardiomyopathy, cataract and mitochondrial dysfunction. There is also a strong similarity to other encephalomyopathies especially to the Leigh-Syndrome.
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PMID:[Encephalomyelopathy, cardiomyopathy, cataract and changes in the retinal pigment epithelium resulting from a cytochrome c oxidase deficiency]. 284 43

A six day old boy died from an hereditary hypertrophic cardiomyopathy which was associated with mitochondrial myopathy of skeletal muscle, congenital cataract and lactic acidosis. In heart and skeletal muscle identical mitochondrial abnormalities were found: paucity and abnormal arrangement of cristae, formation and extrusion of vesicle-like structures and crystalline inclusions in the matrix compartment. Electron-cytochemistry revealed that only part of the mitochondria reacted positively for cytochrome oxidase activity. Morphometric analysis indicated that the cardiomegaly was due to cellular hypertrophy, which might be caused by an increase in the mitochondrial mass. The cardiac hypertrophy in this syndrome can be classified histopathologically as mitochondrial hypertrophic cardiomyopathy.
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PMID:Hereditary mitochondrial hypertrophic cardiomyopathy with mitochondrial myopathy of skeletal muscle, congenital cataract and lactic acidosis. 312 Apr 3

Three children from two unrelated families were found to be suffering from a hitherto little-known disorder. Infantile cataract was the primary symptom at the age of 3 months, progressed quickly and necessitated surgery. At the same age, muscular hypotonia was prominent and delayed gross motor development. At preschool and school ages muscle strength and exercise tolerance were reduced, and slight muscular exercise caused marked lactic acidemia. Subsequently, hypertrophic cardiomyopathy was discovered by echocardiography, though with no signs of cardiac obstruction at that time. There were no neurological symptoms. Intellectual development was normal. The disorder is inherited as an autosomal recessive. It can be recognized from the combination of infantile cataract, muscular hypotonia, cardiomyopathy, and lactic acidosis, which, however, must be looked for carefully. Early diagnosis is mandatory for genetic counseling. The ophthalmologist holds the key to diagnosis.
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PMID:[Infantile cataract, hypertrophic cardiomyopathy and lactic acidosis following minor muscular exertion--a little known metabolic disease]. 356 Jul 58

We studied 12 patients from six unrelated families with a syndrome that has an autosomal recessive pattern of inheritance and can be diagnosed from clinical, histologic, and biochemical characteristics. The four major symptoms are congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy of voluntary muscles, and exercise-related lactic acidosis. The patients had bilateral and total cataract in the first weeks of life, underwent cataract surgery, and developed nystagmus and strabismus. Corrected visual acuity was lower than 20/40 in aphakic eyes. Patients were mentally normal, and at school age they visited a school for blind and visually impaired children. The majority of the patients developed axial myopia with myopic fundus changes; aphakic refraction usually was lower than 10.0 diopters after the first decade. The cardiac myopathy was progressive and the cause of premature death. Three of the 12 patients died in the neonatal period and six patients died in early adulthood.
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PMID:Features of a syndrome with congenital cataract and hypertrophic cardiomyopathy. 378 54

Structurally abnormal mitochondria were found in skeletal muscle cells from a woman with hypertrophic cardiomyopathy and myopathy of voluntary muscles associated with congenital cataracts. Moderate exercise resulted in lactic acidosis. Oxidation of pyruvate and other substrates and the production of adenosine triphosphate were normal in vitro. A younger brother of the patient had had congenital cataract and had died from hypertrophic obstructive cardiomyopathy.
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PMID:Hypertrophic cardiomyopathy associated with a mitochondrial myopathy of voluntary muscles and congenital cataract. 405 95

The ophthalmic examination of patients with hypertrophic cardiomyopathy treated with high doses of verapamil over a considerable period of time showed no evidence of a side effect of the drug, thus proving its ocular safety. This could be verified by densitometric image analysis of Scheimpflug photographs of the eyes. The data were used for statistical tests on lens transparency. Changes in lens transparency, i.e. a probable drug-induced cataract were found in none of the patients.
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PMID:Evaluation of the ocular safety of verapamil. Scheimpflug photography with densitometric image analysis of lens transparency in patients with hypertrophic cardiomyopathy subjected to long-term therapy with high doses of verapamil. 654 30

Myotonic dystrophy (DM) is commonly associated with CTG repeat expansions within the gene for DM-protein kinase (DMPK). The effect of altered expression levels of DMPK, which is ubiquitously expressed in all muscle cell lineages during development, was examined by disrupting the endogenous Dmpk gene and overexpressing a normal human DMPK transgene in mice. Nullizygous (-/-) mice showed only inconsistent and minor size changes in head and neck muscle fibres at older age, animals with the highest DMPK transgene expression showed hypertrophic cardiomyopathy and enhanced neonatal mortality. However, both models lack other frequent DM symptoms including the fibre-type dependent atrophy, myotonia, cataract and male-infertility. These results strengthen the contention that simple loss- or gain-of-expression of DMPK is not the only crucial requirement for development of the disease.
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PMID:Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice. 867 18

The syndrome of hypertrophic cardiomyopathy, mitochondrial myopathy, congenital cataract, and lactic acidosis is a rare disease. It is now considered as an autosomal recessive inheritance. Two forms of the syndrome can be identified, the neonatal fatal and the benign adult variants. We report on 2 cases from a family and compared their clinical and histopathological features with 23 other patients previously reported in the literature. Detailed histochemical and ultrastructural findings of these two patients are outlined in the text. Histopathological features revealed abnormal mitochondrial proliferation in the heart and skeletal muscles. Tissue staining showed the activities of several enzymes of the mitochondrial respiratory chain to be within normal range. Despite severe lactic acidemia, no defect was found in the rate of pyruvate oxidation among these patients.
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PMID:Syndrome of mitochondrial myopathy of the heart and skeletal muscle, congenital cataract and lactic acidosis. 1498 59

3-Methylglutaconic aciduria is the biochemical marker of several inherited metabolic diseases. Four types of 3-methylglutaconic aciduria can be distinguished. In the type I form, accumulation of 3-methylglutaconate is due to deficient activity of 3-methylglutaconyl-CoA hydratase, an enzyme of the leucine degradation pathway. In the other forms, 3-methylglutaconic acid is not derived from leucine but is of unidentified origin, possibly derived from other metabolic pathways, such as mevalonate metabolism. We report five patients, all presenting a severe early-onset phenotype characterized by 3-methylglutaconic aciduria, hypertrophic cardiomyopathy, cataract, hypotonia/developmental delay, lactic acidosis, and normal 3-methylglutaconyl-CoA hydratase activity. This peculiar phenotype, for which a primary mitochondrial disorder is hypothesized, identifies a novel subtype of 3-methylglutaconic aciduria.
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PMID:Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria. 1673 96


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