Lysinuric protein intolerance with chronic interstitial lung disease and pulmonary cholesterol granulomas at onset.
Hyperammonemia and encephalopathy developed in an 11-year-old girl with chronic interstitial lung disease and cholesterol casts in her lung biopsy specimen. She had decreased plasma levels of ornithine, lysine, and arginine and excessive urinary excretion of lysine and arginine, consistent with the diagnosis of lysinuric protein intolerance. Analysis of plasma and urinary amino acids should be considered in the diagnostic evaluation of patients with interstitial lung disease of uncertain origin.
Kerem
E
E
Department of Pediatrics, Shaare Zedek Medical Center, Jerusalem, Israel.
Elpelg
O N
ON
Shalev
R S
RS
Rosenman
E
E
Bar Ziv
Y
Y
Branski
D
D
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000378:metabolism; D002648:Child; D002784:Cholesterol; D005260:Female; D015745:Granuloma, Foreign-Body / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D008171:Lung Diseases / Q000150:complications / Q000175:diagnosis*; D008239:Lysine / Q000378:metabolism; D011658:Pulmonary Fibrosis / Q000150:complications / Q000175:diagnosis*
D002784:Cholesterol; D008239:Lysine