The Mucopolysaccharidosis type I (MPS I) newborn screening panel is used to report the results of newborn screening for the diagnosis of MPS I, also known as Hurler syndrome, an inherited disorder in which the body is unable to produce an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). MPS I is caused by mutations in the IDUA gene and has an autosomal recessive pattern of inheritance.
status
ACTIVE
Fully-Specified Name
component
Mucopolysaccharidosis type I newborn screening panel
property
-
time
Pt = Point in time: To identify measures at a point in time. This is a synonym for “spot” or “random” as applied to urine measurements.
system
Bld.dot = Blood filter paper
scale
-
method
Additional Names
short name
alpha-L-Iduronidase; Asympt; Asymptomatic; Blood; Chemistry; DBS; Dried blood spot; Filter paper; FP; Gyn; Gynecology; IDUA; MPS I; MPS I NBS Pnl; MPS-I; NB Screen Pnl; NBS; New born; OB; ObGyn; Obstetrics; Pan; PANEL.CHEMISTRY; Panl; Pnl; Point in time;
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