Sarcosinaemia in a retarded, amaurotic child

Abstract

A 9-month-old Turkish girl demonstrated an abnormal qualitative amino acid excretion pattern suggestive of sarcosinaemia. She was blind and had evidence of developmental and motor retardation. No other physical abnormalities were noted. Quantitative amino acid analysis revealed elevated serum and urine sarcosine levels. An oral sarcosine loading test showed… (More)
DOI: 10.1007/BF00441750

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