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

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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Bibliographic Details
Main Authors: J. Andres Morales, Christina G. Tise, Amrita Narang, Paul C. Grimm, Gregory M. Enns, Chung U. Lee
Format: Article
Language:English
Published: Elsevier 2021-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Glycogen storage disorder type IX
GSD IXɑ2
PHKA2
Sensorineural hearing loss
Neonatal lactic acidosis
Renal tubulopathy
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426921000598

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http://www.sciencedirect.com/science/article/pii/S2214426921000598

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