Transaldolase deficiency

Transaldolase Deficiency

Transaldolase deficiency (pronounced as trans-al-dol-ase de-fi-ciency) is a rare metabolic disorder that affects the body's ability to metabolize sugar and amino acids. The condition is inherited in an autosomal recessive manner.

Etymology

The term "Transaldolase deficiency" is derived from the name of the enzyme, Transaldolase, which is deficient in individuals with this condition. The word "deficiency" comes from the Latin word "deficientia", meaning "a lack or shortage".

Symptoms

Symptoms of Transaldolase deficiency can vary widely among affected individuals. They may include hepatomegaly (enlarged liver), cirrhosis (scarring of the liver), anemia (low red blood cell count), thrombocytopenia (low platelet count), and leukopenia (low white blood cell count). Some individuals may also have developmental delay, intellectual disability, and failure to thrive.

Diagnosis

Diagnosis of Transaldolase deficiency is typically made through biochemical testing and genetic testing. Biochemical testing may reveal abnormal levels of certain substances in the blood or urine, while genetic testing can identify mutations in the TALDO1 gene, which provides instructions for making the transaldolase enzyme.

Treatment

Treatment for Transaldolase deficiency is primarily supportive and symptomatic. It may include dietary management to control blood sugar levels, medication to manage symptoms, and regular monitoring of liver function and blood counts. In severe cases, a liver transplant may be necessary.

Prognosis

The prognosis for individuals with Transaldolase deficiency varies depending on the severity of the condition and the individual's response to treatment. With appropriate management, many individuals with this condition can lead a normal life.

See Also

• Metabolic disorder
• Autosomal recessive
• Genetic testing
• Liver transplant

External links

• Medical encyclopedia article on Transaldolase deficiency
• Wikipedia's article - Transaldolase deficiency

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