PGM3 deficiency

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC

PGM3 deficiency
Synonyms	Phosphoglucomutase 3 deficiency
Pronounce	N/A
Specialty	Immunology, Genetics
Symptoms	Immunodeficiency, Allergy, Eczema, Developmental delay
Complications	N/A
Onset	Infancy
Duration	Chronic
Types	N/A
Causes	Mutations in the PGM3 gene
Risks	Family history of the condition
Diagnosis	Genetic testing, Clinical evaluation
Differential diagnosis	Hyper-IgE syndrome, Wiskott-Aldrich syndrome
Prevention	N/A
Treatment	Supportive care, Immunoglobulin replacement therapy
Medication	N/A
Prognosis	Variable, depending on severity
Frequency	Rare
Deaths	N/A

PGM3 deficiency is a rare genetic disorder that affects the body's ability to produce certain types of glycans, which are essential for normal immune function and development. This condition is caused by mutations in the PGM3 gene, which encodes the enzyme phosphoglucomutase 3. This enzyme plays a critical role in the synthesis of UDP-GlcNAc, a building block for glycan synthesis.

Genetics

PGM3 deficiency is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. Carriers, who have only one copy of the mutation, typically do not show symptoms.

Pathophysiology

The PGM3 enzyme is involved in the conversion of N-acetylglucosamine-6-phosphate to N-acetylglucosamine-1-phosphate, a precursor in the biosynthesis of UDP-GlcNAc. This compound is crucial for the formation of glycoproteins and glycolipids, which are important for cell signaling, immune response, and structural integrity of cells. Deficiency in PGM3 leads to impaired glycosylation, resulting in a wide range of clinical manifestations.

Clinical Features

Individuals with PGM3 deficiency may present with a variety of symptoms, including:

• Immunodeficiency: Increased susceptibility to infections due to impaired immune function.
• Allergic reactions: Such as eczema and asthma.
• Developmental delay: Including intellectual disability and motor skill impairment.
• Skeletal abnormalities: Such as short stature and joint problems.

Diagnosis

Diagnosis of PGM3 deficiency is typically made through genetic testing, which can identify mutations in the PGM3 gene. Additional tests may include:

• Immunological assays: To assess immune function.
• Biochemical tests: To evaluate glycosylation patterns.

Treatment

There is currently no cure for PGM3 deficiency, and treatment is primarily supportive. Management strategies may include:

• Antibiotic prophylaxis: To prevent infections.
• Immunoglobulin replacement therapy: To boost immune function.
• Allergy management: Including medications to control allergic symptoms.

Prognosis

The prognosis for individuals with PGM3 deficiency varies depending on the severity of the symptoms and the effectiveness of the management strategies. Early diagnosis and intervention can improve quality of life and reduce complications.

See Also

• Glycosylation disorders
• Immunodeficiency
• Genetic disorders