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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, non-disease
causing false positive newborn screening test results for maple syrup urine disease [Staufner et al. 2016]
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
Glycine0.000.00110.00356.00normal/increasedurinechildhood
Proline 0.00129.00normal/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