HYDROXYPROLINEMIA

Question 1

What is  HYDROXYPROLINEMIA?

Accepted Answer

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]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hydroxyprolinämie

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 237000

Question 4

Which enzymes are involved?

Accepted Answer

4-hydroxy-L-proline oxidase

Disease	HYDROXYPROLINEMIA
Synonym	4-HYDROXY-L-PROLINE OXIDASE DEFICIENCY; HYDROXYPROLINEMIA I AND II
OMIM	237000 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
ExPASy	1.1.1.104
Gene locus	unknown
ICD	E72.5
Summary	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 findings	Hydroxyproline 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