Arginosuccinicaciduria

Abstract

A 4-year-old girl with arginosuccinic\x=req-\ 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.

Development of an analytical HPLC methodology to study the effects of thymosin β4 on actin in sputum of cystic fibrosis patients

“…Cystic fibrosis is the most common inherited lethal disease in people of European descent 5 . The defective transmembrane conductance regulator gene in CF patients results in abnormally thick and viscous luminal secretions throughout the body but most notably in the airways of the respiratory system, causing the majority of the morbidity and mortality of the disease.…”