5-OXOPROLINASE DEFICIENCY (OPLAHD)

Question 1

What is  5-OXOPROLINASE DEFICIENCY (OPLAHD)?

Accepted Answer

rare
autosomal recessive
mutation in OPLAH gene
other causes of 5-oxoproline excretion: infantile formula malnutrition, prematurity, acetaminophen and other drugs (in adults) severe burns unresolved [Ruijter GJG et al. 2006]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Oxoprolinase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 260005

Question 4

Which enzymes are involved?

Accepted Answer

5-oxoprolinase

Disease	5-OXOPROLINASE DEFICIENCY (OPLAHD)
Synonym	5-OXOPROLINURIA
OMIM	260005 OMIM = Online Mendelian Inheritance of Men
Orphanet	33572
Protein (UniProt)	5-oxoprolinase
ExPASy	3.5.2.9
Gene locus	8q24.3
ICD	E72.8
Summary	rare autosomal recessive mutation in OPLAH gene other causes of 5-oxoproline excretion: infantile formula malnutrition, prematurity, acetaminophen and other drugs (in adults) severe burns unresolved [Ruijter GJG et al. 2006]
Laboratory findings	L-Pyroglutamic acid (5-Oxoproline) inc (urine) 5-Oxoprolinase dec (fibroblasts) 5-Oxoprolinase dec (leucocytes)
Symptoms	anemia cleft palate colitis or enterocolitis diarrhea failure to thrive hypotonia mental retardation metabolic acidosis microcephaly (<2 SD for age) no clinical symptoms (probably) no consistent clinical picture onset, childhood onset, infancy Organic acids, urine pain, abdominal renal colic respiratory distress urolithiasis, nephrolithiasis, kidney stones urolithiasis, nephrolithiasis, kidney stones vomiting