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Synonyms: CDG syndrome type Ih | CDG-Ih | CDG1H | Carbohydrate deficient glycoprotein syndrome type Ih | Congenital disorder of glycosylation type 1h | Congenital disorder of glycosylation type Ih | Glucosyltransferase 2 deficiency

A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea vomiting feeding problems with failure to thrive protein-losing enteropathy) edema and ascites (including hydrops fetalis) hepatomegaly renal tubulopathy coagulation anomalies due to thrombocytopenia brain involvement (psychomotor delay seizures ataxia) facial dysmorphism (low-set ears and retrognathia) pes equinovarus and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1) resulting in a block in the initial step of protein glycosylation.

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 May 2024

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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

Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.

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.

Clinical Trials

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