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Summary
HYDROXYPROLINEMIA
4-HYDROXY-L-PROLINE OXIDASE DEFICIENCY HYDROXYPROLINEMIA I AND II
237000
OMIM = Online Medalian Inheritance of Men
---
unknown
rare (1:47.300 in Germany)
autosomal recessive
homozygous or compound heterozygous mutations in PRODH2
benign
symptoms
Amino acids, plasma
Amino acids, urine
hematuria
mental retardation
no clinical signs or symptoms
laboratory finding
Hydroxyproline100.001000.000.0091.00-Ámol/lplasma
Hydroxyproline200.00550.0020.00320.00mg/24hurinenewborn
Glycine0.000.00113.00542.00normal/increasedurinechildhood
Proline 0.00130.00normal/increasedurine
Literature
Monastiri Ket al.beta-Ketothiolase (2-methylacetoacetyl-CoA thiolase) deficiency: a frequent disease in Tunisia?J Inherit Metab Dis228932-9331999
Thomas GHBeaudet ALDisorders of glycoprotein degradation and structure: alpha-mannosidosis, beta-mannosidosis, fucosidosis, sialidosis, aspartylglucosminuria and carbohydrate- deficient glycoprotein syndromeThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.202529-25611995
Frank GRThe role of estrogen in pubertal skeletal physiology: epiphyseal maturation and mineralization of the skeletonActa Pediatr840627-6301995
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Macdonald Aet al.Ready to drink protein substitute is easier is for people with phenylketonuriaJ Inher Met Dis290526-5312006
Phornphutkul Cet al.Natural history of alkaptonuriaN Engl J Med34702111-21212002