hydroxylysine and Ataxia-Telangiectasia

Ataxia telangiectasia has been associated with varying clinical and laboratory abnormalities of the cutaneous, immune, neurological, and endocrine systems. Recently, a primary defect in tissue differentiation has been proposed as a probable cause of the disease. The presence of biochemically abnormal collagen in the skin of two siblings with the disease may further support this hypothesis.

Topics: Amino Acids; Ataxia Telangiectasia; Collagen; Collagen Diseases; Female; Humans; Hydroxylysine; Immunologic Deficiency Syndromes; Skin