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HYPERPROLINEMIA, TYPE II

HYPERPROLINEMIA, TYPE II
HP II
239510
OMIM = Online Mendelian Inheritance of Men
79101
Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial
1.2.1.88
1p36.13
E72.5
rare
autosomal recessive
mutation in the pyrroline-5-carboxylate dehydrogenase gene
2 types:
- type I hyperprolinaemia (MIM 239500)
- type II hyperprolinaemia (MIM 239510)
Laboratory findingsHydroxyproline inc (urine)
Proline inc (urine)
    Glycine inc (urine)
    Ornithine inc (serum)
    Proline inc (plasma)
    Pyrroline-5-carboxylic dehydrogenase dec (lymphocytes)
SymptomsEEG abnormalities [-]
seizures
    Amino acids, plasma
    Amino acids, urine
    mental retardation
    no clinical symptoms (probably)
    onset, childhood
    onset, infancy
    renal failure, acute/chronic