Arginosuccinic Aciduria in a 4-Year-Old Girl: Neurological Symptoms and Hair Abnormalities
May 1974
in “
American journal of diseases of children
”
TLDR The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
A 4-year-old girl with arginosuccinic-aciduria showed symptoms including mental retardation, seizures, ataxia, and abnormal hair. Despite normal fasting and postprandial ammonia and blood urea nitrogen levels, there was an unknown enzymic block in the urea cycle. Hair strength was significantly reduced, although trichorrexis nodosa was not diagnosed, and the hair's cystine content was notably low. The neurological symptoms associated with this disorder were not clearly understood.
