Порушення метаболізму проліну та гідроксипроліну
Disease (OMIM Number) | Defective Proteins or Enzymes | Comments |
|---|---|---|
Hyperprolinemia, type I (239500*) | Proline oxidase (proline dehydrogenase) | Biochemical profile: Elevated plasma proline and urinary proline, hydroxyproline, and glycine Clinical features: Usually benign; hereditary nephritis, nerve deafness Treatment: None needed |
Hyperprolinemia, type II (239510*) | Delta1-pyrroline-5-carboxylate dehydrogenase | Biochemical profile: Elevated plasma proline and pyrroline-5-carboxylate (P5C); elevated urinary P5C, delta1-pyrroline-5-carboxylate, proline, hydroxyproline, and glycine Clinical features: During childhood, seizures, intellectual disability During adulthood, benign Treatment: None needed |
Delta1-pyrroline-5-carboxylate synthetase deficiency (138250*) | Delta1-pyrroline-5-carboxylate synthetase | Biochemical profile: Low plasma proline, citrulline, arginine, and ornithine Clinical features: Hyperammonemia, cataracts, intellectual disability, joint laxity Treatment: Avoidance of fasting |
Hyperhydroxyprolinemia (237000*) | 4-Hydroxyproline oxidase | Biochemical profile: Hydroxyprolinemia Clinical features: Disease association not proven Treatment: None needed |
Prolidase deficiency (170100*) | Prolidase | Biochemical profile: Amino acid profile normal in unhydrolyzed urine, but excessive proline and hydroxyproline in acid-hydrolyzed urine Clinical features: Skin ulcers, frequent infections, dysmorphic features, immunodeficiency, intellectual disability, chronic lung disease Treatment: Proline supplement, Mn++ and ascorbic acid, essential amino acids, blood transfusion (packed red blood cells), topical proline and glycine ointment |
* For complete gene, molecular, and chromosomal location information, see the Online Mendelian Inheritance in Man (OMIM) database. | ||