Hyperalaninemia with pyruvicemia (preliminary report).
نویسندگان
چکیده
patient. The other sister was living and well. The patient showed a slow progress in mental and motor function since the infancy. During the infancy she had often vomiting. There was no history of convulsions or severe illness. On admission at the age of 9 years, the patient showed mental retardation and motor dysfunction of severe degree. She was able to sit alone but unable to stand or walk. The extremities were somewhat rigid and the deep tendon reflexes were weak. EEG showed findings of hypsarrhythmia. Thin-layer chromatograms of serum amino acids showed an increase in alanine. The concentration of serum alanine was found to range from 5.0 to 8.0mg per 100 ml on repeated examinations (normal value; 1.90 to 5.40mg per 100ml). The other amino acids in serum were within normal limits. Fasting blood glucose was 80mg per 100ml. Blood pyruvate levels were 2.9 to 4.1mg per 100ml (normal value; 0.5 to 1.5mg per 100ml). Blood lactate levels were 16.6 to 23.3mg per 100ml (normal values; 10 to 20mg per 100ml). Paperchromatography of urinary organic acids revealed a remarkable spot of pyruvic acid but no abnormal spots were detected otherwise. Serum alanine levels following the alanine loading showed an almost normal clearance curve except for the elevation of base level. Glucose tolerance test was normal. But the patient showed a significant rise of blood pyruvate and lactate after glucose loading as compared with controls. The activity of
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عنوان ژورنال:
- The Tohoku journal of experimental medicine
دوره 97 1 شماره
صفحات -
تاریخ انتشار 1969