HYPERPROLINEMIA, TYPE I

Question 1

What is  HYPERPROLINEMIA, TYPE I?

Accepted Answer

rare
autosomal recessive
mutation in the proline dehydrogenase gene
some patients have no symptoms
2 types:
- type I hyperprolinaemia (MIM 239500)
- type II hyperprolinaemia (MIM 239510)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hyperprolinämie Typ I; Prolinoxydase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 239500

Question 4

Which enzymes are involved?

Accepted Answer

proline oxidase

Disease	HYPERPROLINEMIA, TYPE I
Synonym	PROLINE OXIDASE DEFICIENCY; HP I
OMIM	239500 OMIM = Online Mendelian Inheritance of Men
Orphanet	419
Protein (UniProt)	proline oxidase
ExPASy	1.5.99.B2
Gene locus	22q11.21
ICD	E72.5
Summary	rare autosomal recessive mutation in the proline dehydrogenase gene some patients have no symptoms 2 types: - type I hyperprolinaemia (MIM 239500) - type II hyperprolinaemia (MIM 239510)
Laboratory findings	Pipecolic acid inc (urine) Proline inc (plasma) Proline inc (urine) Glycine inc (urine) Hydroxyproline inc (urine) Proline oxidase dec (liver)
Symptoms	Amino acids, plasma Amino acids, urine behavior, abnormal or bizarre, confusion behavior, hyperactive, restless corneal clouding hypotonia joint hypermobilty, dislocations, laxity joint laxity learning disability mental retardation no clinical symptoms (probably) onset, childhood onset, infancy onset, neonatal osteopenia renal cysts rhizomelia seizures status epilepticus