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At least 793 records · Page 44Linked to original sources
PubMed1967

Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.

A sex-linked familial neurological disease consisting of cerebral palsy, mental retardation, choreoathetosis, and compulsive aggressive behavior is associated with a loss of an enzyme that participates in purine metabolism, namely, hypoxanthine-guanine phosphoribosyltransferase. The production of excessive uric acid in this disorder implies that the enzyme is involved in the normal regulation of purine biosynthesis. This is the first example of a relation between a specific enzyme defect and abnormal compulsive behavior. It is also the first enzyme defect in purine metabolism demonstrated in a neurological disease.

Adenine↗
PubMed1970

Lesch-Nyhan syndrome: preventive control by prenatal diagnosis.

The Lesch-Nyhan syndrome was detected in a fetus at a time sufficiently early to allow termination of the pregnancy. The feasibility of a preventive program for control of a severe sex-linked neurological disease through prenatal diagnosis is thus demonstrated.

Adenine↗
PubMed1970

Biochemically marked lymphocytoid lines: establishment of Lesch-Nyhan cells.

Two lymphocytoid cell lines have been established from a patient with the Lesch-Nyhan syndrome. The cells are deficient in hypoxanthine-guanine phosphoribosyltransferase, as demonstrated by their failure to incorporate [H(3)]hypoxanthine and by their inability to grow in medium in which they were nutritionally dependent upon exogenous hypoxanthine. This represents the first establishment of presumptively permanent human lymphocytoid cell lines that are deficient in a specific enzyme.

Athetosis↗
PubMed1971

Lesch-Nyhan syndrome: altered kinetic properties of mutant enzyme.

Hypoxanthine-guanine phosphoribosyltransferase is virtually inactive in erythrocytes from patients with the classical Lesch-Nyhan syndrome. In one such patient, activity of this enzyme ranged from 8 to 34 percent of normal in erythrocytes when assayed with a very high concentration of magnesium 5-phosphoribosyl-1-pyrophosphate. In addition, the mutant enzyme exhibited sigmoidal kinetics with this substrate as well as an increased Michaelis constant for both guanine and hypoxanthine. These findings provide the first evidence for genetic heterogeneity within the group of patients with the Lesch-Nyhan syndrome.

Athetosis↗
PubMed1970

Metabolic studies and clinical observations during L-dopa treatment of Parkinson's disease.

Twenty-two patients with Parkinson's disease were treated for the periods of up to six months with L-dopa. In nine of the male patients metabolic observations were made after oral administration of (14)C-L-dopa.Peak serum levels of total radioactivity represented small fractions of the dose given and occurred at one to two hours after ingestion. Two-thirds of the dose was excreted as metabolites in urine in eight hours. Insignificant fractions of the dose were excreted in stool and expired air. These results indicate rapid and complete absorption from the gastrointestinal tract, as well as rapid distribution and excretion. Clinical observations confirmed that L-dopa is an effective treatment for Parkinson's disease. Improvements in disability averaged 47% at 30 days, 55% at 50 days, and 60% at three months. Degree of improvement tended to be inversely related to age of patient, duration of illness, and severity of disease. Side-effects were seen in most patients, but were always reversible with dose reduction. Nausea was the chief dose-limiting side-effects in early therapy and choreoathetosis after two months of treatment. The average tolerated daily dose was 3 g. On the basis of this experience it seems that the drug can be used safely and effectively on an outpatient basis provided that dosage increments are introduced gradually, maximum dosage is limited to 4 g. a day, and supervision is both close and continuous.

Age Factors↗
PubMed1970

Choreoathetotic movement disorder in alcoholism.

A syndrome of choreoathetosis in association with alcoholism has been found in 12 patients. It appeared to occur more often in women, was transient, and may have been associated with alcohol withdrawal. It was not associated with gross liver disease, phenothiazine administration, or familial chorea, and no consistent abnormalities in whole blood thiamine or nicotinic acid, in serum magnesium, or in serum vitamin B(12) levels were present.

Adult↗