P5CS deficiency

P5CS deficiency is a rare genetic condition that affects the body’s ability to properly process certain amino acids, specifically proline and ornithine. It is described as an inborn error of metabolism caused by changes in the ALDH18A1 gene. These genetic changes can lead to a wide range of symptoms and affect several body systems. People with this condition may experience neurocutaneous and motor issues. This includes problems with skin elasticity (cutis laxa), weak connective tissue, unusual facial features (facial dysmorphism), growth challenges, developmental delays, as well as eye problems such as cataracts. Muscle tone may also be impacted, leading to both low tone (hypotonia) and high tone (hypertonia), and there may be muscle wasting (amyotrophy).

Common symptoms in people with P5CS deficiency include loose, sagging skin, weakness of connective tissues, and distinctive facial features. They may also have growth restrictions and developmental delays. Additionally, eye issues such as cataracts, abnormal muscle tone (both low and high tone), and muscle wasting have been observed.

P5CS deficiency is caused by changes (pathogenic variants) in the ALDH18A1 gene. These genetic alterations disrupt the normal metabolism of proline and ornithine, leading to multiple effects on the skin, muscles, and nervous system.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.