Profound neonatal lactic acidosis and renal tubulopathy in a patient with glycogen storage disease type IXɑ2 secondary to a de novo pathogenic variant in PHKA2

The phenotype of individuals with glycogen storage disease (GSD) IX appears to be highly variable, even within subtypes. Features include short stature, fasting hypoglycemia with ketosis, hepatomegaly, and transaminitis. GSD IXɑ2 is caused by hemizygous pathogenic variants in PHKA2, and results in d...

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Detalles Bibliográficos
Autores principales: Morales, J. Andres, Tise, Christina G., Narang, Amrita, Grimm, Paul C., Enns, Gregory M., Lee, Chung U.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8261893/
https://www.ncbi.nlm.nih.gov/pubmed/34277355
http://dx.doi.org/10.1016/j.ymgmr.2021.100765

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8261893/
https://www.ncbi.nlm.nih.gov/pubmed/34277355
http://dx.doi.org/10.1016/j.ymgmr.2021.100765

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