OROTIC ACIDURIA, HEREDITARY (UMPS)

Question 1

What is  OROTIC ACIDURIA, HEREDITARY (UMPS)?

Accepted Answer

rare
autosomal recessive
mutation in the UMPS gene
type I MIM 258900
type II MIM 258920 -> moved to 258900

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hereditäre Orotazidurie; Uridin-Monophosphat-Synthase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 258900

Question 4

Which enzymes are involved?

Accepted Answer

uridine 5-monophosphate synthase

Disease	OROTIC ACIDURIA, HEREDITARY (UMPS)
Synonym	OROTIC ACIDURIA I; OROTIC ACIDURIA II
OMIM	258900 OMIM = Online Mendelian Inheritance of Men
Orphanet	30
Protein (UniProt)	uridine 5-monophosphate synthase
ExPASy	4.1.1.23
Gene locus	3q21.2 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Uridine monophosphate synthetase (orotate phosphoribosyl transferase and orotidine-5'-decarboxyla
ICD	E79.8
Summary	rare autosomal recessive mutation in the UMPS gene type I MIM 258900 type II MIM 258920 -> moved to 258900
Laboratory findings	Orotic acid inc (plasma) Orotic acid inc (urine) Hemoglobine dec (blood)
Symptoms	anemia megaloblastic anemia diarrhea immunodeficiency infections (severe or recurrent) urolithiasis, nephrolithiasis, kidney stones congenital heart defect developmental delay failure to thrive growth retardation, poor growth hematuria hypotonia mental retardation neutropenia (decreased neutrophils) onset, infancy onset, neonatal Organic acids, urine stomatitis strabismus ventricular septal defect