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May 1974

Arginosuccinicaciduria: The Hair Abnormality

Author Affiliations

Akron, Ohio; Kent, Ohio
From the departments of pathology (Dr. Potter and Mr. West) and pediatrics (Dr. Timmons), and the Division of Neurology (Dr. Timmons), Children's Hospital of Akron (Ohio); and the Biophysics Laboratory, Department of Physics, Kent (Ohio) State University (Dr. Silvidi).

Am J Dis Child. 1974;127(5):724-727. doi:10.1001/archpedi.1974.02110240110017

A 4-year-old girl with arginosuccinic-aciduria exhibited mental retardation, seizures, ataxia, and abnormal hair. Fasting and postprandial ammonia and blood urea nitrogen levels were maintained within normal limits. The mechanism of urea synthesis, in the face of an apparent enzymic block in the Krebs-Henseleit (urea) cycle, remains unknown. Physical indexes of hair strength were measured directly, and found to be markedly reduced. A diagnosis of trichorrexis nodosa was not established, but the cystine content of the hair was significantly reduced. The cause of the neurological features associated with this amino acid disorder remain speculative.

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