Definition

What is B4GALT1-CDG?

B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies.

How common is B4GALT1-CDG?

B4GALT1-CDG is extremely rare. To date, only one case has been reported. Please discuss with your doctor for further information.

disorder

What are the symptoms of B4GALT1-CDG?

The common symptoms of B4GALT1-CDG are:

  • Dandy-Walker malformation
  • Hydrocephalus
  • Macrocephaly
  • Muscular hypotonia
  • Myopathy
  • Abnormality of coagulation
  • Autosomal recessive inheritance
  • Elevated serum creatine phosphokinase
  • Generalized hypotonia
  • Global developmental delay

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes B4GALT1-CDG?

The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.

Risk factors

What increases my risk for B4GALT1-CDG?

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is B4GALT1-CDG diagnosed?

Please consult with your doctor for further information.

How is B4GALT1-CDG treated?

Please consult with your doctor for further information.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage B4GALT1-CDG?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Review Date: January 28, 2018 | Last Modified: January 28, 2018

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