SNP Shot: Genomic Insights

Ornithine translocase deficiency is a genetic condition characterized by a buildup of ammonia and other substances in the bloodstream. This accumulation occurs because the body cannot properly process proteins, leading to toxic levels of ammonia. The nervous system is particularly vulnerable to the damaging effects of excessive ammonia.

The severity and onset of ornithine translocase deficiency can vary significantly. Some infants exhibit symptoms within days of birth, while others experience their first health problems later in life, ranging from childhood to adulthood. Generally, later-onset forms of the deficiency are milder than those appearing in infancy.

Infants with ornithine translocase deficiency might display symptoms such as lethargy, refusal to eat, frequent vomiting, and difficulty regulating breathing or body temperature. Seizures and unusual movements are also commonly observed. While some individuals experience intellectual disability or developmental delays, others have normal cognitive abilities. In severe instances, the condition can lead to coma.

Individuals with later-onset ornithine translocase deficiency may experience episodes of vomiting, lethargy, coordination problems (ataxia), vision disturbances, encephalopathy (brain dysfunction), developmental delays, learning disabilities, or spasticity (muscle stiffness). Chronic liver problems and mild abnormal bleeding may also occur.

Those affected by ornithine translocase deficiency often have difficulty tolerating high-protein foods like meat. High-protein meals or stressors like illness or fasting can trigger a rapid rise in ammonia levels in the blood, leading to the manifestation of the condition's symptoms.

Although symptoms can vary widely among individuals with ornithine translocase deficiency, appropriate treatment can help prevent complications and improve overall quality of life.

Inheritance:

Ornithine translocase deficiency follows an autosomal recessive inheritance pattern. This means that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition. The parents, who each carry one copy of the mutated gene, are typically asymptomatic carriers.