Necropsy findings in lysinuric protein intolerance

• Published in: Journal of clinical pathology Vol. 49; no. 4; pp. 345 - 347
• Main Authors: McManus, D T, Moore, R, Hill, C M, Rodgers, C, Carson, D J, Love, A H
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd and Association of Clinical Pathologists 01.04.1996; BMJ; BMJ Publishing Group LTD
• Subjects: Adult; Amino Acid Metabolism, Inborn Errors - complications; Amino Acid Metabolism, Inborn Errors - pathology; Amino Acid Metabolism, Inborn Errors - urine; Aminoacid disorders; Arginine - metabolism; Biological and medical sciences; Errors of metabolism; Female; Follow-Up Studies; Glomerulonephritis, IGA - etiology; Glomerulonephritis, IGA - pathology; Humans; Liver Cirrhosis - etiology; Liver Cirrhosis - pathology; Lysine - urine; Medical sciences; Metabolic diseases; Ornithine - metabolism; Human; Case study; Immunohistochemistry; Proteins; Pathology; Intolerance; Metabolic disorder; IgA; Autopsy; Lysine; Young adult; Genetic disease
• ISSN: 0021-9746; 1472-4146
• DOI: 10.1136/jcp.49.4.345

Lysinuric protein intolerance (LPI) is a rare autosomal recessive inborn error of metabolism, characterised by defective transport of the cationic amino acids lysine, arginine and ornithine. To date there are few reported necropsy cases. This report describes the necropsy findings in a 21 year old female patient originally diagnosed as having LPI in 1973. Liver function tests deteriorated and immediately before death jaundice, hyperammonaemia, coma, metabolic acidosis, and a severe bleeding diathesis developed. At necropsy, there was micronodular cirrhosis of the liver with extensive fatty change in hepatocytes. The lungs showed pulmonary alveolar proteinosis. Immunofluorescence and electron microscopy revealed the presence of a glomerulonephritis with predominant IgA deposition. These necropsy findings reflect the spectrum of lesions reported in LPI, providing further evidence of an association between this condition and pulmonary alveolar proteinosis, cirrhosis and glomerulonephritis.