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Summary
PHOSPHOHYDROXYLYSINURIA (PHLU)
615011
OMIM = Online Medalian Inheritance of Men
---
5q35.3
very rare
mutation in the AGXTL2 gene
symptoms
ataxia
growth retardation, poor growth
joint hypermobilty, dislocations
onset, childhood
seizures
laboratory finding
Phosphohydroxylysine mmol/mol creatinineurine
Literature
Cryer PEMinireview: Glucagon in the pathogenesis of hypoglycemia and hyperglycemia in diabetes.Endocrinology15331039-10482012
Arrobas-Velilla T,et al.Pseudo-hypertriglyceridaemia or hyperglycerolemia?Clin Investig Arterioscler253123-1262013