Genetics What is the enzymatic deficiency in this case? Explain how this enzymes
ID: 98414 • Letter: G
Question
Genetics
What is the enzymatic deficiency in this case? Explain how this enzymes acts in normal situations
Based on signs & symptoms described, describe which other findings is expected to be detected in this case?
Tay Sachs diagnosis is based on which test/. Among which population are recommended this detection and what is the relationship between Jewish population and this condition?
CASE 6 . An lethargy. Physical and the cranial shape autosomal recessive disease and dead to the age of 3 years. Ashkenazi jewish to scar with rigin 7-month baby is brought to department exam reveals an exaggerated to . the paediatric due response noise, a fixed vision, he is bigger than average. Fundoscopic examination reveals a tinctive reddish dots. You suspect that this patient is having an se called Tay Sachs that progress to neurologic progression SachExplanation / Answer
Tay–Sachs disease is caused by insufficient activity of the enzyme hexosaminidase A. Hexosaminidase A is a vital hydrolytic enzyme, found in the lysosomes, that breaks down glycolipids.
This enzyme helps break down a particular fatty acid called GM2 ganglioside. Without adequate amounts of functional enzymes, GM2 ganglioside will build up in nerve cells and cause them to die.
An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder.
Antental screening is a diagnosis made in this disorder.It can be done by the following tests.
A four base pair insertion in exon 11 (1278insTATC) results in an altered reading frame for the HEXA gene. This mutation is the most prevalent mutation in the Ashkenazi Jewish population, and leads to the infantile form of Tay–Sachs disease.
Related Questions
Navigate
Integrity-first tutoring: explanations and feedback only — we do not complete graded work. Learn more.