Problem 11 - Biology

Question

An inherited disorder caused by a defective or absent enzyme is called a(an) (a) karyotype (b) trisomy (c) reciprocal translocation (d) inborn error of metabolism (e) aneuploidy

Step-by-Step Solution

Answer

The disorder is an inborn error of metabolism.

Step 1: Understand the Terminology

First, we need to understand what each of the terms in the options means. A karyotype is the number and visual appearance of chromosomes in a cell. Trisomy refers to an additional chromosome. Reciprocal translocation is an exchange of segments between two chromosomes. An inborn error of metabolism is a genetic disease resulting from a defective or missing enzyme. Aneuploidy is the presence of an abnormal number of chromosomes in a cell.

Step 2: Identify Relationship to Enzymes

We are looking for an option that relates directly to a defective or absent enzyme caused by a genetic issue. Inborn errors of metabolism are directly related to enzymes as they arise from the lack or dysfunction of an enzyme due to genetic defects.

Step 3: Confirm by Exclusion

By excluding the other options based on their definitions — karyotype (visual chromosomal analysis), trisomy (extra chromosome), reciprocal translocation (chromosome segment exchange), and aneuploidy (abnormal number of chromosomes), we confirm that 'inborn error of metabolism' specifically involves enzymes.

Key Concepts

Genetic Disorder

Genetic disorders are conditions caused by anomalies in an individual's DNA. Such anomalies can occur due to mutations, which are changes in the DNA sequence, or inheritance patterns where faulty genes are passed from parents to children.
These disorders vary vastly in severity and symptoms, depending on the specific genes involved. Here are some key points about genetic disorders:

• Often inherited from one or both parents but can also occur spontaneously.
• They can affect various bodily functions and may lead to chronic health issues.
• Diagnosing genetic disorders typically involves genetic testing and a thorough review of personal and family medical history.

Understanding genetic disorders helps in recognizing the importance of genetic counseling, which provides families with information and support when dealing with such disorders.

Enzyme Deficiency

Enzyme deficiency occurs when the body lacks an adequate amount of a specific enzyme needed for biochemical reactions. Enzymes are proteins that catalyze metabolic processes, ensuring that bodily functions proceed smoothly.
When an enzyme is missing or malfunctioning, it leads to a buildup of substrates or a shortage of the enzyme's products, causing various health problems.

• Common symptoms include fatigue, developmental delays, or specific organ dysfunctions.
• Treatment often involves dietary modifications, enzyme replacement therapy, or supplements to manage symptoms.
• Enzyme deficiencies can be diagnosed through blood tests, urine tests, and genetic testing.

By understanding enzyme deficiencies, individuals can manage symptoms effectively and seek proper medical care.

Genetic Defects

Genetic defects refer to abnormalities in the genetic material that can lead to various medical conditions. These defects can be drastic, such as missing segments of chromosomes, or subtle, like single-gene mutations.
The impact of genetic defects can range from mild physical anomalies to severe developmental disorders.

• Caused by inherited mutations or environmental factors causing mutations during cell division.
• They are often categorized based on their mode of inheritance, such as autosomal dominant, autosomal recessive, or X-linked recessive.
• Prevention, early diagnosis, and management of genetic defects are crucial for improving the quality of life for affected individuals.

By identifying and understanding genetic defects, healthcare providers can offer targeted treatments and predictive insights for at-risk populations.