PHOSPHOHYDROXYLYSINURIA (PHLU)

Question 1

What is  PHOSPHOHYDROXYLYSINURIA (PHLU)?

Accepted Answer

very rare

mutation in the AGXTL2 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 615011

Question 3

Which enzymes are involved?

Accepted Answer

5-phosphohydroxy-L-lysine phospho-lyase

Disease	PHOSPHOHYDROXYLYSINURIA (PHLU)
OMIM	615011 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Protein (UniProt)	5-phosphohydroxy-L-lysine phospho-lyase
Gene locus	5q35.3
ICD
Summary	very rare mutation in the AGXTL2 gene
Laboratory findings	Phosphohydroxylysine inc (urine)
Symptoms	ataxia growth retardation, poor growth joint hypermobilty, dislocations, laxity onset, childhood seizures