hypophosphatasia是什么意思，hypophosphatasia翻译

hypophosphatasia是什么意思，hypophosphatasia翻译

Hypophosphatasia: Understanding the Genetic Disorder

Introduction

Hypophosphatasia is a rare genetic disorder characterized by defective bones and teeth. It is caused by mutations in the ASPA gene, which leads to a deficiency of the enzyme aspartate aminotransferase (ASPA). This enzyme is essential for the normal functioning of the body, particularly in the metabolism of certain minerals, including phosphorus and calcium.

Causes and Inheritance Pattern

Hypophosphatasia is inherited in an autosomal recessive pattern, which means that both copies of the ASPA gene must be mutated for the disorder to be expressed. This typically occurs when both parents are carriers of a single mutated gene, but they themselves do not exhibit symptoms of the disorder. The mutated gene is passed on to their offspring, who then have a 25% chance of inheriting two mutated genes and expressing the disorder.

Clinical Symptoms

The symptoms of hypophosphatasia can vary in severity and may not be present at birth. Some common symptoms include bone deformities, fractures, and dental abnormalities. Infants with severe hypophosphatasia may experience muscle weakness, difficulty swallowing, and respiratory problems, which can be life