HYPERPROLINEMIA, TYPE II

Question 1

What is  HYPERPROLINEMIA, TYPE II?

Accepted Answer

rare
autosomal recessive
mutation in the pyrroline-5-carboxylate dehydrogenase gene
2 types:
- type I hyperprolinaemia (MIM 239500)
- type II hyperprolinaemia (MIM 239510)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hyperprolinämie Typ II; Pyrrolincarboxylsäure-Dehydrogenasemangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 239510

Question 4

Which enzymes are involved?

Accepted Answer

Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial

Disease	HYPERPROLINEMIA, TYPE II
Synonym	HP II
OMIM	239510 OMIM = Online Mendelian Inheritance of Men
Orphanet	79101
Protein (UniProt)	Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial
ExPASy	1.2.1.88
Gene locus	1p36.13
ICD	E72.5
Summary	rare autosomal recessive mutation in the pyrroline-5-carboxylate dehydrogenase gene 2 types: - type I hyperprolinaemia (MIM 239500) - type II hyperprolinaemia (MIM 239510)
Laboratory findings	Hydroxyproline inc (urine) Proline inc (urine) Glycine inc (urine) Ornithine inc (serum) Proline inc (plasma) Pyrroline-5-carboxylic dehydrogenase dec (lymphocytes)
Symptoms	EEG abnormalities [-] seizures Amino acids, plasma Amino acids, urine mental retardation no clinical symptoms (probably) onset, childhood onset, infancy renal failure, acute/chronic