Tag: Autosomal recessive

An extremely rare autosomal recessive metabolic disorder, dimethylglycine dehydrogenase (DMGDH) deficiency, is the true medical condition behind what is colloquially known as dimethylglycine deficiency. The key characteristic is not a simple nutritional shortfall, but a genetic inability to properly process the amino acid derivative N,N-dimethylglycine (DMG), leading to specific, identifiable symptoms.

Affecting an extremely limited number of individuals worldwide, congenital atransferrinemia is a very rare genetic disease. The primary cause of atransferrinemia is a specific genetic mutation that disrupts the body's ability to transport iron, leading to a complex and paradoxical set of symptoms involving both a lack of iron delivery and toxic iron accumulation.

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.

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.

According to the National Organization for Rare Disorders, Hartnup disease was first described in 1956 and is estimated to affect 1 in 30,000 individuals. A lesser-known metabolic condition, what is another name for Hartnup disease? It is also referred to as Hartnup disorder, a genetic condition impacting the body's ability to absorb certain amino acids.

While dietary deficiency is rare in healthy individuals, numerous cases of severe biotin deficiency are caused by underlying, inherited metabolic disorders that prevent the body from processing this essential vitamin. The answer to "can biotin deficiency be genetic" is a definitive yes, and early identification is crucial for effective treatment.

While most cases of low vitamin K levels are acquired through dietary or other health factors, an extremely rare condition known as Hereditary Combined Vitamin K-Dependent Clotting Factor Deficiency (VKCFD) is indeed hereditary. This article explores the difference between these forms of vitamin K deficiency, helping to distinguish a rare genetic issue from more common acquired causes.