Prolidase deficiency


A rare metabolic disorder where an enzyme (prolidase) deficiency impairs the breakdown of certain proteins which causes a harmful buildup in the body. The type and severity of symptoms are variable and may include skin disorders, retarded motor development, impaired cognitive development, frequent infections and skeletal abnormalities.


* Mental retardation * Characteristic facial features * Prominent skull sutures * Drooping upper eyelid * Bulging eyes * Enlarged spleen * Chronic dermatitis * Leg ulcers * Recurrent respiratory infections * Childhood obesity * Lax joints * Waddling gait * Protruding abdomen * Osteoporosis * Mild mental retardation * Iminodipeptiduria


Prolidase deficiency is characterized by severe skin ulcers, facial abnormalities, chronic joint dislocations, bacterial infections, and mental retardation. Asymptomatic patients, though rare, have also been recognized. Due to this deficiency of the exopeptidase called prolidase, patients may also excrete large amounts of iminodipeptides in the urine, a condition called iminodipeptiduria.


Prognosis of Prolidase deficiency: variable, depends on level of deficiency