Lipid profile of children with glycogen storage disease

Glycogen storage disease type I: clinical and laboratory profile.

OBJECTIVES To characterize the clinical, laboratory, and anthropometric profile of a sample of Brazilian patients with glycogen storage disease type I managed at an outpatient referral clinic for inborn errors of metabolism. METHODS This was a cross-sectional outpatient study based on a convenience sampling strategy. Data on diagnosis, management, anthropometric parameters, and follow-up were...

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Pompe's Glycogen Storage Disease

The clinical spectrum is continuous and broad and three major forms are recognised: infantile, juvenile and adult-onset. [1] In the infantile form, accumulation of glycogen in cardiac muscle leads to cardiac failure. Accumulation may also occur in the liver, which results in hepatomegaly and elevation of hepatic enzymes. Glycogen accumulation in muscle and peripheral nerves causes hypotonia and...

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Pompe's Glycogen Storage Disease

The clinical spectrum is continuous and broad and three major forms are recognised: infantile, juvenile and adult-onset. [1] In the infantile form, accumulation of glycogen in cardiac muscle leads to cardiac failure. Accumulation may also occur in the liver, which results in hepatomegaly and elevation of hepatic enzymes. Glycogen accumulation in muscle and peripheral nerves causes hypotonia and...

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[Glycogen storage disease].

The glycogen storage diseases (GSD) or glycogenoses are a heterogenous group of inborn errors of carbohydrate metabolism that lead to abnormal concentrations or structure of glycogen. Several well defined disorders of glycogen metabolism, have been described based on the identified enzymatic defects or sometimes the distinctive features(l). We wish to report our experience with one such case of...

متن کامل

Pompe's Glycogen Storage Disease

The clinical spectrum is continuous and broad and three major forms are recognised: infantile, juvenile and adult-onset. [1] In the infantile form, accumulation of glycogen in cardiac muscle leads to cardiac failure. Accumulation may also occur in the liver, which results in hepatomegaly and elevation of hepatic enzymes. Glycogen accumulation in muscle and peripheral nerves causes hypotonia and...

متن کامل

Lipid profile of children with glycogen storage disease

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منابع مشابه

Glycogen storage disease type I: clinical and laboratory profile.

Pompe's Glycogen Storage Disease

Pompe's Glycogen Storage Disease

[Glycogen storage disease].

Pompe's Glycogen Storage Disease

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