P5CS Deficiency
P5CS deficiency is caused by changes in ALDH18A1, which makes the enzyme P5CS needed to produce proline and ornithine. It can be inherited in an autosomal recessive way (changes in both copies) or in an autosomal dominant way, where a single changed copy, often arising de novo, interferes with the enzyme.
Tünetek és jelek
Features range across a spectrum. Features can include loose, wrinkled skin (cutis laxa), a progeroid (prematurely aged) appearance, cloudy corneas or lens opacities, loose joints, developmental delay and intellectual disability. Lower limb spasticity (stiffness) can also occur. Blood tests may show low ornithine, citrulline or arginine.
Mit változtat a diagnózis
Care includes eye assessment and surgery for clouding when needed, physiotherapy and spasticity management, developmental support, and metabolic follow-up of amino acid levels. Genetic counselling is recommended because both recessive and dominant inheritance occur; testing parents helps clarify recurrence risk.
Vizsgált gének
Más néven
delta1-pyrroline-5-carboxylate synthetase deficiency
6 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- ALDH18A1-related de Barsy syndrome
- autosomal dominant complex spastic paraplegia type 9B
- autosomal dominant spastic paraplegia type 9
- autosomal recessive complex spastic paraplegia type 9B
- cutis laxa, autosomal dominant 3
- hereditary spastic paraplegia 9A
