Introduction:
Aldolase deficiency is also known as a fructose-1,6-bisphosphatase deficiency. It is a rare genetic disorder. The disorder affects the carbohydrate metabolism in the body, which occurs due to mutations (alteration) in the ALDOB gene. This gene is responsible for an enzyme called aldolase B and plays an essential role in the breakdown of glucose and fructose (types of sugar), important energy sources for the body. Aldolase deficiency disorder is inherited in an autosomal recessive pattern.
What Is Autosomal Reccesive Inheritanace?
In autosomal recessive, an individual must inherit two copies of the mutated (altered) gene from both parents to develop the condition. Carriers are the ones who inherit only one copy of the mutated gene. As a result, carriers do not typically exhibit+ disease symptoms.
What Is the Prevalence of Aldolase Deficiency?
Aldolase deficiency is a rare genetic disorder that affects only a few individuals. The exact prevalence of the condition is unknown. It is estimated that it affects 1 in every 500,000 individuals worldwide.
What Are the Symptoms of Aldolase Deficiency?
Symptoms of aldolase deficiency are described as follows:
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Muscle Cramps - One common symptom of aldolase deficiency is muscle cramps. It can occur in the muscles of the legs and arms. These cramps are painful, so individuals cannot move their limbs.
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Muscle Weakness and Fatigue - It is also one of the most common symptoms of aldolase deficiency. It is seen in the legs, arms, and trunk muscles. It makes it difficult for individuals to perform daily activities, including climbing stairs and walking. In addition, muscle weakness and fatigue become worse during physical activity or stress.
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Fever and Malaise - People with aldolase deficiency feel fever, malaise, and lethargy.
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Lack of Appetite and Weight Loss - Individuals with aldolase deficiency may also experience a lack of appetite and weight loss. It can also be due to muscle weakness and fatigue.
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Hypoglycemia - Hypoglycemia refers to a low level of sugar in the blood. Some individuals with aldolase deficiency may also experience it. It can result in confusion, irritability, and seizures.
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Gastrointestinal Symptoms - Some people may have gastrointestinal symptoms. These symptoms are such as abdominal pain, nausea, and vomiting. These symptoms occur due to weakness in the abdominal muscles.
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Cardiac Symptoms - Some people with aldolase deficiency experience cardiac symptoms. These include arrhythmias (abnormal heart rhythms) and cardiomyopathy (a heart muscle disease).
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Neurological Symptoms - Neurological symptoms include numbness, tingling, and weakness in the extremities. These symptoms result from weakness in the peripheral nerves.
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Respiratory Symptoms - People with aldolase deficiency experiences respiratory symptoms in some cases. These include symptoms such as difficulty breathing, chest pain, and cough. These symptoms occur due to muscle weakness in the chest and diaphragm.
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Developmental Delays - In some cases of aldolase deficiency, infants and young children may experience developmental delays. Children also sometimes struggle to reach certain milestones, such as walking or crawling.
What Is the Diagnosis of Aldolase Deficiency?
The diagnosis of aldolase deficiency includes the following:
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Clinical Examination - It is considered the first step in diagnosing aldolase deficiency. A healthcare provider will take a detailed medical history then the doctor will conduct a thorough physical examination of the patient. They will also look for common signs and symptoms in aldolase deficiency patients, such as muscle weakness, fatigue, and muscle cramp.
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Laboratory Testing - Laboratory tests include blood tests that can measure the level of aldolase B in the blood. Lab tests are used to confirm the diagnosis of aldolase deficiency. Aldolase B levels will be lower than expected or absent in affected patients.
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Genetic Testing - Genetic testing can help identify the mutation in the ALDOB gene, which is the leading cause of the condition.
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Biopsy - In rare cases, muscle biopsy also helps in the diagnosis of aldolase deficiency. In a muscle biopsy, a small sample of muscle tissue is removed and microscopically examined for the presence of aldolase B enzyme. Conversely, the absence of the aldolase B enzyme in muscle tissue confirms the diagnosis of aldolase deficiency.
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Imaging Testing - Imaging studies are also helpful in diagnoses such as magnetic resonance imaging (MRI) or computed tomography (CT) scans. These tests can detect muscle weakness and muscle atrophy (decreased muscle size due to degeneration), which are the signs of aldolase deficiency.
What Is the Treatment of Aldolase Deficiency?
There is currently no sure treatment for aldolase deficiency. Treatment options mainly focus on managing symptoms to prevent further complications. These include the following:
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Dietary Management - A crucial aspect of treating aldolase deficiency is dietary management. Dietary management includes a diet low in sugar, protein, and healthy fats. In addition, these people should also avoid foods high in fructose, such as fruits, fruit juices, and honey. People should also prevent corn syrup because it contains high fructose amount.
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Medications - Medication is given to control blood sugar levels. Drugs used in the treatment of hypoglycemia include drugs such as dextrose, glucose, and glucagon. The medication is also used in treating muscle weakness and cramps, such as painkillers and muscle relaxants.
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Physical and Occupational Therapy - Physical and occupational therapy is helpful for patients with aldolase deficiency. These therapies maintain muscle strength and help improve the body's overall function.
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Monitoring and Follow-up Care - Patients with aldolase deficiency should stay under the care of a healthcare provider team.
What Is the Prognosis of Aldolase Deficiency?
The prognosis of aldolase deficiency patients depends upon the stage of symptoms and the severity of the condition. It has been observed the prognosis is better if individuals are diagnosed early and treated accurately. With adequate management and regular monitoring, most patients with aldolase deficiency can live their everyday lives. However, in severe cases, the condition can cause significant muscle weakness, affecting the patient's mobility and decreasing the overall quality of life.
Conclusion:
Aldolase deficiency is a rare genetic disorder that affects carbohydrate metabolism in the body. Symptoms depend on the severity of the condition. Unfortunately, there is currently no cure for aldolase deficiency. Therefore, patients with aldolase deficiency need to consult their healthcare provider. Early diagnosis and prompt treatment can help prevent complications and improve the patient's overall health condition. A team of doctors includes a genetic counselor, a dietitian, and a neurologist to help manage their condition and optimize patients' overall health and well-being. Regular monitoring and follow-up care are essential to ensure that the treatment plan is working adequately and to make any necessary adjustments if required.
