PGM1-CDG
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PGM1-CDG Overview

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Learn About PGM1-CDG

What is the definition of PGM1-CDG?
There are many steps in glycosylation, each of which is controlled by a different gene. The type of CDG a person has depends on which gene is involved. The signs and symptoms of PGM1-CDG can be different from person to person. They may include cleft palate or bifid uvula; low blood sugar (hypoglycemia); endocrine disorders; muscle disease, leading to muscle weakness or death of muscle fibers (rhabdomyolysis); liver disease; blood clotting problems; and a weak and enlarged heart chamber (dilated cardiomyopathy). Some people with PGM1-CDG have central nervous system involvement such as seizures, development delay, or intellectual disability. PGM1-CDG is caused by genetic changes in the PGM1 gene and inheritance is autosomal recessive. The diagnosis may be suspected based on symptoms and specific blood test results, and it is confirmed with genetic testing. The course of the disorder and whether symptoms or complications may affect the lifespan are difficult to predict and vary among people with PGM1-CDG.
What are the alternative names for PGM1-CDG?
  • PGM1-CDG
  • CDG syndrome type It
  • CDG-It
  • CDG1T
  • Congenital disorder of glycosylation type 1t
  • Congenital disorder of glycosylation type It
  • Congenital disorder of glycosylation, type It
  • GSD type 14
  • GSDXIV
  • Glycogen storage disease due to phosphoglucomutase deficiency
  • PGM1-related congenital disorder of glycosylation
  • Phosphoglucomutase deficiency type 1
  • Phosphoglucomutase-1 deficiency
  • Type 14 glycogenosis
Who are the top PGM1-CDG Local Doctors?
Distinguished in PGM1-CDG
Distinguished in PGM1-CDG
Referral may be required
Izumi, JP 

Yoshinao Wada practices practicing medicine in Izumi, Japan. Wada is rated as a Distinguished expert by MediFind in the treatment of PGM1-CDG. They are also highly rated in 6 other conditions, according to our data. Their clinical expertise encompasses PGM1-CDG, West Syndrome, ALG1-CDG, and Congenital Nephrotic Syndrome.

Distinguished in PGM1-CDG
Distinguished in PGM1-CDG
Referral may be required
Nijmegen, GE, NL 

Dirk Lefeber practices practicing medicine in Nijmegen, Netherlands. Mr. Lefeber is rated as a Distinguished expert by MediFind in the treatment of PGM1-CDG. He is also highly rated in 26 other conditions, according to our data. His clinical expertise encompasses ALG6-CDG, PGM1-CDG, PMM2-Congenital Disorder of Glycosylation, and DPAGT1-CDG.

 
 
 
 
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Distinguished in PGM1-CDG
Distinguished in PGM1-CDG
Referral may be required
Hoppe Seyler Str. 3, 
Tuebingen, BW, DE 

Christian Thiel practices practicing medicine in Tuebingen, Germany. Mr. Thiel is rated as a Distinguished expert by MediFind in the treatment of PGM1-CDG. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses PGM1-CDG, PMM2-Congenital Disorder of Glycosylation, Cutis Laxa, and Autosomal Recessive Cutis Laxa Type 1.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center