ATP6AP1-CDG: Follow-up and female phenotype

Patryk Lipiński; Dariusz Rokicki; Anna Bogdańska; Justyna Lesiak; Dirk J Lefeber; Anna Tylki-Szymańska

doi:10.1002/jmd2.12104

ATP6AP1-CDG: Follow-up and female phenotype

JIMD Rep. 2020 Apr 9;53(1):80-82. doi: 10.1002/jmd2.12104. eCollection 2020 May.

Authors

Patryk Lipiński¹, Dariusz Rokicki¹, Anna Bogdańska², Justyna Lesiak³, Dirk J Lefeber⁴, Anna Tylki-Szymańska¹

Affiliations

¹ Department of Pediatrics, Nutrition and Metabolic Diseases The Children's Memorial Health Institute Warsaw Poland.
² Department of Biochemistry, Radioimmunology and Experimental Medicine The Children's Memorial Health Institute Warsaw Poland.
³ Department of Nephrology, Kidney Transplantation and Hypertension Children's Memorial Health Institute Warsaw Poland.
⁴ Department of Laboratory Medicine, Translational Metabolic Laboratory Radboud University Medical Center Nijmegen The Netherlands.

Abstract

In 2016, 11 male patients were reported with immunodeficiency and hepatic, gastric and (in some) neurological disease due to X-linked ATP6AP1 deficiency (ATP6AP1-CDG). In 2018, three other patients were reported with additional features: connective tissue abnormalities, sensorineural hearing loss, hyperopia, glomerular and tubular dysfunction, exocrine pancreatic insufficiency and altered amino acid and lipid metabolism. We here present a follow-up of three reported siblings showing progression of deafness to total hearing loss, progressive loss of hair up to alopecia, chestnut skin and, at last follow-up, in some of them proteinuria. Three female carriers showed a normal serum transferrin isoelectrofocusing but in two of them there was a persistent proteinuria.

Keywords: ATP6AP1 deficiency; congenital disorder of glycosylation; proteinuria.