Final answer:
Ornithine Transcarbamylase (OTC) deficiency is an X-linked genetic disorder causing hyper-ammonemia type-II due to impaired ammonia processing. It results in elevated glutamine levels in various body fluids. The case of Jesse Geisinger highlights the risks associated with gene therapy for treating OTC deficiency.
Step-by-step explanation:
Inheritance of Ornithine Transcarbamylase Deficiency:
Ornithine Transcarbamylase (OTC) deficiency is an X-linked genetic disorder that affects the body's ability to process ammonia, resulting in hyper-ammonemia type-II. A clinical finding associated with OTC deficiency includes the elevation of glutamine in the blood, cerebrospinal fluid (CSF), and urine. Male children primarily display the symptoms because the gene is located on the X chromosome. In females, who have two X chromosomes, the unaffected X can often compensate for the defective gene, making them carriers.
The case of Jesse Geisinger illustrates the potential risk of gene therapy for OTC deficiency, where an 18-year-old patient died following a massive immune response to the adenovirus vector used in the treatment. The underlying issue in OTC deficiency is the impaired conversion of ammonia to urea, leading to the accumulation of ammonia and associated toxicity.
Other metabolic disorders such as Histidinemia, Tyrosinosis, Alkaptonuria, and Albinism result from specific enzyme deficiencies and are inherited in different patterns, such as autosomal recessive or autosomal dominant, affecting the metabolism of amino acids or proteins in the body.