Gauchers disease an inborn error of

Thierry Billette De Villemeur, in Handbook of Clinical NeurologyClinical symptoms Gaucher disease is a progressive disorder with a very large spectrum of visceral and neurological severity and unpredictable prognosis in many cases Charrow et al. The full clinical description of Gaucher disease needs to consider five subtypes of the condition, with splenomegaly being the leader clinical sign in every subtype: Age of onset is variable, with half of the affected patients being diagnosed before the age of 10 years Charrow et al. Patients with mild involvement may be diagnosed in adulthood and some may remain asymptomatic throughout their lifetime.

Gauchers disease an inborn error of

What to Expect

Gaucher disease What every physician needs to know: Gaucher disease is an inborn error of metabolism in the family of lysosomal storage diseases due to a deficiency of glucocerebrosidase acid beta-glucosidase [GBA or GCase]. As a result, the substrate glucosylceramide or glucocerebroside which is a component of cell membranes accumulates in the macrophages of the bone, liver, spleen and more rarely lungs, kidneys and brain.

Are you sure your patient has Gaucher disease? What should you expect to find? Because of the excess storage of glucosylceramide, there is the potential for significant bone and bone marrow disease, hepatosplenomegaly, anemia and thrombocytopenia. Patients complain of fatigue, bruising, bone pain, and children can experience growth retardation.

Significant morbidity can result, leading to aseptic necrosis of bone, bone infarcts which can cause bone crisespathological fractures, portal and pulmonary hypertension. Beware of other conditions that can mimic Gaucher disease: Because of the anemia, thrombocytopenia and splenomegaly, the differential diagnosis includes: Which individuals are most at risk for developing Gaucher disease: The disease is due to mutations of a gene located on chromosome 1 q There are three types of Gaucher disease: Type 1 disease has been considered non-neuronopathic Type 2 patients have severe neurological consequences and is lethal by 1 to 2 years Type 3 disease has the onset of neurological signs in the first or second decades and life expectancy of 20 to 30 years.

What laboratory studies should you order to help make the diagnosis and how should you interpret the results?


Gaucher disease in the past was diagnosed by bone marrow examination. However, this is unnecessary today, since enzymatic diagnosis can be made on peripheral blood leucocytes. Additional studies should include a complete blood count, chemistries and liver panel.

Surrogate markers, which are lysosomal enzymes, which include tartrate resistant acid phosphatase, angiotensin-converting enzyme and chitotrosidase, can be used to corroborate the diagnosis and to follow treatment.

Gauchers disease an inborn error of

What imaging studies if any will be helpful in making or excluding the diagnosis of Gaucher disease? Imaging studies are a very important, not only for diagnostic purposes, but also for monitoring the course of the disease. Performing a magnetic resonance imaging MRI scan or computed tomography CT imaging of the liver and spleen, utilizing volumetric measurements of these organs, is of critical importance.Pathophysiology Gaucher's disease is an autosomal-recessive lipidosis caused by a deficiency of acid b-glucosidase Because acid b-glucosidase hydrolyzes glucocerebroside in lysosomes to glucose and ceramide, Gaucher's disease is characterized by the lysosomal accumulation of glucocerebrosides (primarily glucosylceramide).

Gaucher's disease - Wikipedia

4 Differential Diagnosis of newborn crash Adrenal insufficiency, sepsis, congenital heart disease, asphyxia Amino acid abnormality (MSUD) Urea cycle abnormality Organic aciduria (proprionic, methylmalonic) Congenital lactic acidosis Mitochondrial disorder.

Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. The signs and symptoms of this condition vary widely among affected individuals.

Aug 18,  · Gaucher disease is a lipid storage disease characterized by the deposition of glucocerebroside in cells of the macrophage-monocyte system. The disorder results from the deficiency of a specific lysosomal hydrolase, glucocerebrosidase (also termed acid beta-glucosidase, glucosylceramidase).

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Gaucher disease

Gaucher's disease Gaucher disease (GD) is an autosomal recessive lysosomal disorder caused by a deficiency of the enzyme beta-glucocerebrosidase (also called acid beta-glucosidase or acid beta-glucosylceramidase) and accumulation of glucosylceramide (GL1) and other glycolipids.

Gaucher disease (GD) is an inborn error of metabolism that affects the recycling of cellular glycolipids. GD is one of the most common lysosomal storage disease.

Gaucher's disease - Wikipedia