Sialuria, French type

Sialuria, French type
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Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Developmental delay, hepatomegaly, dysmorphic features
Complications	N/A
Onset	Infancy
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	N/A
Diagnosis	Genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Supportive care
Medication	N/A
Prognosis	Variable
Frequency	N/A
Deaths	N/A

Sialuria, French type is a rare genetic disorder characterized by the excessive accumulation of free sialic acid in the body. This condition is part of a group of disorders known as sialic acid storage diseases.

Etiology

Sialuria, French type, is caused by a mutation in the GNE gene, which encodes the enzyme UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. This enzyme is crucial in the biosynthesis of sialic acid, a key component of glycoproteins and glycolipids. The mutation leads to an overproduction and accumulation of free sialic acid in the cytosol of cells.

Clinical Features

Patients with Sialuria, French type, typically present in infancy with a range of symptoms. These may include:

• Developmental delay
• Hepatomegaly (enlarged liver)
• Dysmorphic features
• Hypotonia (reduced muscle tone)
• Failure to thrive

The severity of symptoms can vary significantly among affected individuals.

Diagnosis

Diagnosis of Sialuria, French type, is primarily based on clinical evaluation and confirmed through genetic testing. The presence of elevated free sialic acid levels in the urine can also support the diagnosis.

Management

There is currently no cure for Sialuria, French type. Management is supportive and focuses on addressing the symptoms and improving the quality of life for affected individuals. This may include:

• Physical therapy to improve muscle tone and motor skills
• Nutritional support to address failure to thrive
• Regular monitoring of liver function

Prognosis

The prognosis for individuals with Sialuria, French type, is variable and depends on the severity of the symptoms. Early intervention and supportive care can improve outcomes.

Also see

• Sialic acid storage disease
• GNE myopathy
• Genetic disorders