Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease
Javier de las Heras, Carolina Almohalla, Javier Blasco-Alonso, Mafalda Bourbon, Maria-Luz Couce, María José de Castro López, Mª Concepción García Jiménez, David Gil Ortega, Luisa González-Diéguez, Silvia Meavilla, Ana Moreno-Álvarez, José Pastor-Rosado, Paula Sánchez-Pintos, Irene Serrano-Gonzalo, E · 2024
Read Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease by Javier de las Heras, Carolina Almohalla, Javier Blasco-Alonso, Mafalda Bourbon, Maria-Luz Couce, María José de Castro López, Mª Concepción García Jiménez, David Gil Ortega, Luisa González-Diéguez, Silvia Meavilla, Ana Moreno-Álvarez, José Pastor-Rosado, Paula Sánchez-Pintos, Irene Serrano-Gonzalo, E (2024) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-11678757.txt.
Description
De las Heras and co-authors give in 2024 practical guidance on a rare enzyme deficiency that blocks fat breakdown inside cell lysosomes. The disease has two forms, a severe infant form once called Wolman disease and a later onset form. The review centers on the infant form.
Infants show poor feeding, growth failure, gut problems, inflammation, and enlarged liver and spleen in the first weeks of life. Without specific care, death before age one is near certain. Later forms bring chronic liver injury and blood fat changes. A dried blood spot enzyme test is the fastest firm check. Early enzyme replacement is urged when the infant form is found.
Catalog record
| CREATOR | Javier de las Heras, Carolina Almohalla, Javier Blasco-Alonso, Mafalda Bourbon, Maria-Luz Couce, María José de Castro López, Mª Concepción García Jiménez, David Gil Ortega, Luisa González-Diéguez, Silvia Meavilla, Ana Moreno-Álvarez, José Pastor-Rosado, Paula Sánchez-Pintos, Irene Serrano-Gonzalo, E |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 48 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |