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HYDROXYPROLINEMIA

HYDROXYPROLINEMIA
4-HYDROXY-L-PROLINE OXIDASE DEFICIENCY; HYDROXYPROLINEMIA I AND II
237000
OMIM = Online Mendelian Inheritance of Men
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1.1.1.104
unknown
E72.5
rare (1:47300 in Germany)
autosomal recessive
homozygous or compound heterozygous mutations in PRODH2
benign, non-disease
causing false positive newborn screening test results for maple syrup urine disease [Staufner et al. 2016]
Laboratory findingsHydroxyproline normal/inc (urine)
Proline normal/inc (urine)
    Glycine normal/inc (urine)
    Hydroxyproline inc (plasma)
Symptoms    Amino acids, plasma
    Amino acids, urine
    hematuria
    mental retardation
    no clinical symptoms (probably)
    onset, childhood
    onset, infancy
    onset, neonatal