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Summary
HYPERPROLINEMIA, TYPE I
PROLINE OXIDASE DEFICIENCY HP I
239500
OMIM = Online Medalian Inheritance of Men
419
22q11.21
  • anticonvulsants
  • no treatment indicated/recommended
rare
autosomal recessive
some patients have nio symptoms
2 types: - type I hyperprolinaemia (MIM 239500) - type II hyperprolinaemia (MIM 239510)
symptoms
Amino acids, plasma
Amino acids, urine
behavior, abnormal or bizarre, confusion
behavior, hyperactive, restless
hypotonia
learning disability
mental retardation
no clinical signs or symptoms
renal cysts
seizures
laboratory finding
Proline300.001000.0090.00270.00-Ámol/lplasma
Proline0.000.0021.00213.00increasedurinenewborn
Proline oxidase 10.00 100.00% of normalliver
Glycine 210.00743.00increasedurine
Hydroxyproline0.000.0020.00320.00increasedurinenewborn
Pipecolic acid0.000.00 increasedurineno data
Literature
Ensenauer Ret al.Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiencyAnn Neurol515656-6592002
Bar Jet al.Molecular analysis of acid ceramidase deficiency in patients with Farber diseaseHum Mutat173199-2092001
Baumgartner MRet al.The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiencyJ Clin Invest1074495-5042001
Ofman Ret al.2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 geneAm J Hum Genet7251300-13072003
Olpin SEet al.2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year-old manJ Inher Met Dis250477-4822002
Borgatti Ret al.A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardationNeurology63157-652004
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Ly TBet al.Mutations in the AUH gene cause 3-methylglutaconic aciduria type IHum Mutat214401-4072003