Autoimmune polyglandular syndrome type 1 (APS1) is an inherited disease leading to the immune system attacking healthy cells, especially

ATP7A-related disorders are a spectrum of diseases that result from improper regulation of copper in the body. They generally

Ataxia-telangiectasia (A-T) is an inherited condition that affects the coordination of movement (ataxia), weakens the immune system, and increases

Ataxia with vitamin E deficiency (AVED) leads to the progressive degeneration of the nervous system, resulting in the loss

Aspartylglucosaminuria (AGU) leads to a deficiency of the aspartylglucosaminidase enzyme. This deficiency hinders the breakdown of glycoasparagines, resulting in

Asparagine synthetase deficiency is a severe neurological disorder Symptoms begin during pregnancy or at birth and include a small

Argininosuccinic aciduria is classified as a urea cycle disorder resulting from the deficiency of the enzyme argininosuccinate lyase. Argininosuccinic

Argininemia is classified as one of the urea cycle disorders, where individuals lack the vital enzyme arginase, resulting in

Andermann syndrome is an inherited disorder that leads to progressive nervous system damage. Andermann syndrome presents early in life