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Summary
5-OXOPROLINASE DEFICIENCY (OPLAHD)
5-OXOPROLINURIA
260005
OMIM = Online Medalian Inheritance of Men
33572
8q24.3
  • no specific treatment
rare
autosomal recessive
mutation in OPLAH gene
other causes of 5-oxoproline excretion: infantile formula malnutrition, prematurity, acetaminophen and other drugs (in adults) severe burns unresolved [Ruijter GJG et al. 2006]
symptoms
anemia
cleft palate
diarrhea
failure to thrive
hypotonia
mental retardation
metabolic acidosis
microcephaly (<2 SD for age)
no clinical signs or symptoms
Organic acids, urine
pain, abdominal
respiratory distress
urolithiasis, kidney stones
vomiting
laboratory finding
5-Oxoproline1000.006000.003.0054.00mmol/mol creatinineurine
5-Oxoprolinase0.0010.0036.00104.00pkat/g proteinleucocytes
5-Oxoprolinase 7.0049.00105.00pkat/g proteinfibroblasts
Literature
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