Other disorders of amino-acid transport Save

Other Disorders of Amino Acid Transport

Amino acids are the building blocks of protein and are essential for various biological processes in the human body. Amino acid transport disorders are a group of rare genetic diseases that affect the transportation of amino acids across cell membranes. These disorders are caused by mutations in genes that encode for amino acid transporters, resulting in either reduced or absent amino acid uptake by cells.

There are several types of amino acid transport disorders, each with its unique symptoms and genetic causes. Here are some of the most common ones:

1. Hartnup disease: This disorder is caused by mutations in the SLC6A19 gene, which encodes for a protein that transports neutral amino acids. Hartnup disease leads to the inadequate absorption of certain amino acids in the small intestine and the kidneys, resulting in a range of symptoms, including skin rash, digestive problems, and neurological issues.
2. Cystinuria: In this disorder, mutations in the SLC3A1 and SLC7A9 genes result in the impaired reabsorption of cystine and other dibasic amino acids in the kidneys. As a result, these amino acids accumulate in the urine, leading to the formation of kidney stones and other related complications.
3. Lysinuric protein intolerance: This disorder is caused by mutations in the SLC7A7 gene, which encodes for a protein that transports cationic amino acids. Lysinuric protein intolerance results in the impaired absorption of lysine, arginine, and ornithine, leading to a range of symptoms, including vomiting, diarrhea, and growth retardation.
4. Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: This disorder is caused by mutations in the SLC25A15 gene, which encodes for a protein that transports ornithine across the mitochondrial membrane. HHH syndrome leads to the accumulation of ornithine in the blood and tissues, resulting in hyperammonemia, neurological symptoms, and liver dysfunction.

Other types of amino acid transport disorders include argininemia, citrullinemia, and phenylketonuria (PKU). These disorders can have severe consequences if left untreated, and affected individuals may require lifelong medical management.

In conclusion, amino acid transport disorders are a group of rare genetic diseases that affect amino acid uptake by cells. These disorders can lead to a range of symptoms and complications, and early diagnosis and treatment are essential for managing them effectively.