Tag: Inborn error of metabolism

Pyruvate dehydrogenase complex deficiency (PDCD) is a rare inherited metabolic disorder, with studies showing it is one of the most common neurodegenerative disorders linked to abnormal mitochondrial metabolism. The diet for pyruvate dehydrogenase complex deficiency, primarily a high-fat, low-carbohydrate ketogenic diet, serves to manage symptoms by providing an alternative energy source for the brain and reducing the buildup of lactic acid.

Molybdenum cofactor deficiency (MoCD) is a rare, inherited metabolic disorder, estimated to occur in 1 in 100,000 to 200,000 newborns, and is the primary condition associated with molybdenum deficiency. This metabolic defect leads to a buildup of toxic substances, causing profound and progressive brain dysfunction, seizures, and developmental delay.

According to the National Institutes of Health, phenylketonuria (PKU) is a rare genetic disorder with an incidence of about one in 10,000 to 15,000 births in the United States. Due to a defective enzyme, individuals with this condition cannot process the essential amino acid phenylalanine, which in turn makes tyrosine a conditionally essential amino acid for people with PKU.

Creatine deficiency syndromes are a group of inborn errors of metabolism, affecting less than 2% of males with intellectual disability, making understanding how to tell if you have a creatine deficiency crucial for early diagnosis and intervention.

First identified in 1996, serine deficiency is a treatable neurometabolic disorder that arises from defects in the biosynthesis of the amino acid L-serine. {Link: Wiley Online Library https://onlinelibrary.wiley.com/doi/10.1007/s10545-013-9592-4} Understanding what are the symptoms of a serine deficiency is critical for prompt diagnosis, as early intervention can mitigate severe neurological damage and improve patient outcomes.

Affecting approximately 1 in 10,000 to 15,000 newborns in the United States, phenylketonuria (PKU) is the human genetic disorder most affected by a person's diet. The lifelong management of this condition relies almost entirely on the strict restriction of dietary protein to prevent toxic levels of a specific amino acid from accumulating in the body.

Alkaptonuria is a rare metabolic disorder affecting approximately 1 in 250,000 people globally. Proper dietary management is critical to address what should be restricted in alkaptonuria, focusing on the metabolism of certain amino acids.