Tag: Genetic disease

According to the National Institutes of Health, amino acid metabolism disorders affect 1 in 2,500 births collectively. A condition where you can't process protein is often called an amino acid metabolism disorder or an inborn error of metabolism. These are genetic conditions in which a specific enzyme is either missing or malfunctioning, disrupting the body's ability to break down certain amino acids, the building blocks of protein.

Affecting fewer than 1 in 200,000 children, vitamin D dependent rickets (VDDR) is a rare genetic disorder of bone development. Unlike nutritional rickets, it is not caused by a simple lack of vitamin D in the diet but rather by inherited defects that disrupt the body's ability to properly use the vitamin.

Sickle cell disease affects over 20 million people worldwide, but contrary to some misconceptions, it is a genetic blood disorder and cannot be acquired or prevented through diet alone.

According to the National Institutes of Health, a condition called Phenylketonuria (PKU) affects approximately 1 in 25,000 newborns in the U.S., where the body cannot break down a specific protein component. This is a prime example of what is it called when your body cannot break down protein, a situation known broadly as an inborn error of metabolism.

According to a study on CF children, underweight was diagnosed in 28% of patients at the start of the study, and progressed to 41.2% a year later, highlighting a significant and worsening nutritional challenge. The primary reasons involve a complex interplay of malabsorption, high metabolic demand, and chronic inflammation.

Affecting approximately 1 in 50,000 to 100,000 individuals in Caucasian populations, adenine deficiency is a rare metabolic disorder that primarily impacts the kidneys. Caused by mutations in the *APRT* gene, this inherited condition disrupts adenine metabolism, leading to the accumulation of a toxic byproduct that can cause severe health problems if left untreated.

Affecting approximately one in 100,000 live births in the United States, tyrosinemia requires lifelong dietary management to prevent severe health complications. The core of this treatment involves a strictly controlled, low-protein diet to limit the amino acids tyrosine and phenylalanine.

Transcobalamin II (TC II) deficiency, a key form of B12 transport deficiency, is a rare autosomal recessive disease typically appearing in early infancy. It stems from a genetic mutation, preventing the proper movement of vitamin B12 (cobalamin) into the body's cells despite adequate dietary intake.

Serine deficiency disorders are a group of rare neurometabolic diseases caused by defects in the biosynthesis of the amino acid L-serine. These disorders manifest with a wide range of neurological symptoms, which can vary significantly depending on the age of onset, emphasizing the critical role of L-serine in brain development and function.

According to the National Human Genome Research Institute, phenylketonuria (PKU) is a rare inherited disorder that affects approximately 1 in 10,000 to 15,000 babies born in the United States. It is the most well-known example of a rare disease that can't have protein in the conventional sense, as it involves the body's inability to metabolize a specific amino acid found in protein.