METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA

Question 1

What is  METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA?

Accepted Answer

very rare (10 patients)

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 614875

Disease	METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA
Synonym	SPONDYLOENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA
OMIM	614875 OMIM = Online Mendelian Inheritance of Men
Orphanet	99646
Gene locus
ICD
Summary	very rare (10 patients)
Laboratory findings	2-Hydroxyglutaric acid (D) inc (urine)
Symptoms	hemangioma metaphyseal chondromatosis onset, childhood onset, infancy