Lysinuric protein intolerance presenting as pancytopenia and splenomegaly mimicking acute leukaemia: a case report

BACKGROUND: Lysinuric protein intolerance is a rare inherited metabolic disease due to autosomal recessive mutations of the SLC7A7 gene. The affected patients commonly present with protein-rich food intolerance, failure to thrive, hepatosplenomegaly, muscle hypotonia and lung involvement due to impa...

Descripción completa

Detalles Bibliográficos
Autores principales: Lokuhewage, Chanika, Pathiraja, Hashan, Madawala, Piyumi, Bandara, Sudarshana, Mettananda, Sachith
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10391768/
https://www.ncbi.nlm.nih.gov/pubmed/37528333
http://dx.doi.org/10.1186/s12887-023-04207-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10391768/
https://www.ncbi.nlm.nih.gov/pubmed/37528333
http://dx.doi.org/10.1186/s12887-023-04207-7

Ejemplares similares