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Synonyms: CDG syndrome type It | CDG-It | CDG1T | Congenital disorder of glycosylation type 1t | Congenital disorder of glycosylation type It | PGM1-related congenital disorder of glycosylation | Phosphoglucomutase-1 deficiency

A rare genetic congenital disorder of glycosylation and glycogen storage disease characterized by a wide range of clinical manifestations most commonly presenting with bifid uvula with or without cleft palate at birth associated with growth delay hepatopathy with elevated aminotransferase serum levels myopathy (including exercise-related fatigue exercise intolerance muscle weakness) intermittent hypoglycemia and dilated cardiomyopathy and/or cardiac arrest due to decreased phosphoglucomutase 1 enzyme activity. Less common manifestations include malignant hyperthermia rhabdomyolysis and hypogonadotropic hypogonadism with delayed puberty.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version December 2023

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Advocacy Organizations


Our mission is to promote greater awareness and understanding of CDG & NGLY1-Deficiency, to provide information and support to families affected by CDG & NGLY1, and to advocate for and fund scientific research to advance the diagnosis and treatment of CDG & NGLY1-Deficiency.

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

My Faulty Gene

My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.

Portuguese Association for CDG

The APCDG aims to holistically support families affected by a CDG. Our mission based on the pillars of disease awareness, education, research and to subsequently, speed up the development of therapies that will significantly benefit patients and their family members. We believe that only by adopting a patient-centric approach we will find ways to improve their quality of life.

association for glycogen storage disease

The Association for Glycogen Storage Disease (AGSD) is a patient advocacy organization dedicated to protecting and promoting the best interest of all persons affected by the glycogen storage disease. • AGSD is committed to the identification, treatment, and cure of glycogen storage disease through programs of education, advocacy, research, and patient services.

Clinical Trials

For a list of clinical trials in this disease area, please click here.