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Results for “AMINO ACIDURIA”

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At least 19 recordsLinked to original sources

Organic acidurias and amino acidurias in the aetiology of long-term mental handicap.

In order to evaluate the contribution of patients with organic aciduria and amino acidopathies to populations with severe long-term mental handicap, urine from a total of 1,778 such patients from four hospitals has been examined for organic acids and amino acids. The patients have been classified into eight groups according to the nature of their handicap. It is concluded that, apart from phenylketonuria originating from before dietary treatment was available, known inherited metabolic diseases do not contribute significantly to the incidence of mental handicap in the population studied.

Amino Acid Metabolism, Inborn Errors↗

[Keratosis follicularis spinulosa decalvans and amino-aciduria (author's transl)].

A new case of keratosis follicularis spinulosa decalvans (Siemens, 1925) in a 12 1/2 year old boy is related. This X-dominant inherited disturbance of follicular keratinization is associated with an amino-aciduria in the propositus and his mother, especially an increase of aspartic acid in urin and blood. The scarring infundibular plugs are constituted by nucleated keratin, which brightened up in polarized light and seems to be of internal trichilemmal origin.

Aspartic Acid↗

Amino aciduria in weightlessness.

Urinary excretion of amino acids by the 9 Skylab crewmen was studied as an indicator of the metabolic effects caused by exposure to the space flight environment. Intake was consistent in quality and quantity throughout the 28, 59 and 84-day flights for each of the crewmen and complete collections were accomplished. The results indicated an increased excretion in most amino acids during the first month of flight which remained elevated in the second and third months but to a lesser extent. Additional indications of change in muscle and skeletal metabolism were observed. These results point to the desirability of obtaining additional indices of alterations in protein synthetic processes in conjunction with future space flights.

Adaptation, Physiological↗

[Amino-aciduria].

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Amino Acids↗