A rare PHKA2 variant (p.G991A) identified in a patient with ketotic hypoglycemia

We describe the case of a 4‐year‐old boy who suffered from frequent ketotic hypoglycemia (KH) but did not have hepatomegaly or elevated liver enzyme levels. However, the patient was found to have a rare variant in the PHKA2 gene. To detect the underlying disease in this case, we performed a gene pan...

Descripción completa

Detalles Bibliográficos
Autores principales: Ago, Yasuhiko, Sugie, Hideo, Fukuda, Tokiko, Otsuka, Hiroki, Sasai, Hideo, Nakama, Mina, Abdelkreem, Elsayed, Fukao, Toshiyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6606978/
https://www.ncbi.nlm.nih.gov/pubmed/31392108
http://dx.doi.org/10.1002/jmd2.12041

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6606978/
https://www.ncbi.nlm.nih.gov/pubmed/31392108
http://dx.doi.org/10.1002/jmd2.12041

Ejemplares similares