CDG syndrome type 1C

Congenital Disorders of Glycosylation Type 1C (CDG-1C), also known as CDG Syndrome Type 1C, is a rare genetic disorder that belongs to a group of diseases known as Congenital Disorders of Glycosylation (CDG). CDGs are caused by defects in the process of glycosylation, which is the attachment of sugars to proteins and lipids, a critical process for the proper functioning of various systems in the body. CDG-1C specifically results from mutations in the gene ALG6.

Overview

CDG-1C is characterized by a wide range of clinical symptoms, which can vary significantly among affected individuals. Common manifestations include developmental delay, intellectual disability, seizures, and problems with the liver and digestive system. Some patients may also exhibit coagulation abnormalities, hypotonia (reduced muscle tone), and failure to thrive. The severity of the symptoms can range from mild to severe.

Genetics

The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The gene implicated in CDG-1C is ALG6, located on chromosome 1. Mutations in this gene disrupt the normal process of glycosylation, leading to the symptoms associated with the disorder.

Diagnosis

Diagnosis of CDG-1C typically involves a combination of clinical evaluation and specific laboratory tests. Isoelectric focusing of transferrin, a blood test, is commonly used to screen for CDGs. Further genetic testing can confirm the diagnosis by identifying mutations in the ALG6 gene.

Treatment

There is no cure for CDG-1C, and treatment is symptomatic and supportive. Management strategies may include nutritional support, management of seizures with antiepileptic drugs, and physical therapy to address motor delays. Regular follow-up with a multidisciplinary team is essential to monitor and manage the various aspects of the disorder.

Prognosis

The prognosis for individuals with CDG-1C varies depending on the severity of the symptoms and the presence of complications. Early diagnosis and intervention can improve the quality of life for affected individuals.

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