Tag: Metabolic disorders

Although the human body can produce several grams of inositol daily, this natural synthesis is not always enough to prevent a deficiency. A combination of dietary habits, altered metabolic states, and other factors can disrupt the delicate balance, leading to a suboptimal supply of this vital nutrient.

Phenylketonuria (PKU), a rare inherited disorder affecting about 1 in every 10,000 to 15,000 newborns in the US, is the primary reason why excess phenylalanine is bad for one’s health. This condition prevents the body from properly processing the amino acid, leading to toxic levels that cause significant, often severe, neurological damage.

While the body can produce glycine, a non-essential amino acid, its endogenous production may not be sufficient to meet all metabolic demands, potentially leading to a conditional deficiency. A glycine deficiency can manifest through a variety of subtle and significant symptoms, impacting everything from energy levels and cognitive function to skin health and digestive processes. Recognizing these signs is crucial for early intervention and overall well-being.

According to research, up to 3% of infants under one year of age may develop cow’s milk protein intolerance, but it is not a diagnosis limited to infancy. A protein intolerance is an adverse reaction to ingested food proteins that does not involve the immune system, unlike a true food allergy.

Unlike gout, which is strongly linked to dietary purines, the medical consensus is that no specific food directly triggers pseudogout attacks. Pseudogout, caused by calcium pyrophosphate dihydrate (CPPD) crystals, is more closely associated with underlying metabolic conditions rather than dietary intake.

Carbohydrates are the body's main and preferred source of energy, fueling everything from cellular activity to brain function. The clinical significance of carbohydrates extends far beyond simple energy provision, encompassing complex metabolic pathways, energy storage, and their direct link to several major health conditions and inherited disorders.

Triheptanoin, marketed as Dojolvi, received FDA approval in 2020 as a groundbreaking treatment for patients with long-chain fatty acid oxidation disorders (LC-FAOD). The primary function of triheptanoin is to serve as an alternative energy substrate, providing a crucial source of calories and fatty acids for individuals unable to metabolize long-chain fats effectively.

A staggering 99% of the body's calcium is stored in the bones and teeth. This is just one aspect of what is the mineral metabolism, a complex biological process that regulates the absorption, distribution, and utilization of essential minerals throughout the body.

While excessive supplementation is the most common cause, research indicates that high vitamin B6 (pyridoxal-5′-phosphate or PLP) levels can also arise without supplements due to various underlying conditions. These surprising causes, which include metabolic impairments, genetic disorders, and organ dysfunction, can lead to the accumulation of B6 in the bloodstream and trigger toxic symptoms.

Over 1 in 25,000 newborns in the United States are diagnosed with phenylketonuria (PKU), a disorder that impairs the metabolism of the essential amino acid phenylalanine. In such cases, the amino acid that is classified as conditionally essential when phenylalanine metabolism is insufficient is tyrosine.