Stoffwechseldefekte
Stoffwechseldefekte, also known as metabolic disorders, are a group of conditions that result from an inability to fully break down certain nutrients or to process waste products. These disorders can affect various bodily systems, including the nervous system, muscles, and kidneys. The most common types of Stoffwechseldefekte include phenylketonurie (PKU), galactosämie, and maple syrup urine disease (MSUD).
PKU is an inherited disorder that affects the amino acid phenylalanine. Individuals with PKU cannot break down
Galactosämie is another inherited disorder that affects the metabolism of the sugar galactose. Infants with galactosämie
MSUD is a rare inherited disorder that affects the metabolism of three amino acids: leucine, isoleucine, and
Stoffwechseldefekte can be inherited or acquired. Inherited disorders are typically present at birth, while acquired disorders
Early diagnosis and treatment are crucial for managing Stoffwechseldefekte and preventing long-term complications. Regular medical check-ups