Glycogen storage disorder type II (Pompe)
Glycogen storage disorder type II, Pompe disease, is an inherited disorder caused by an enzyme deficiency that leads to a buildup of glycogen (a sugar) in the body's cells. This buildup can cause muscle weakness, breathing difficulties and death. Early identification through screening and treatment can save lives and prevent other problems associated with the disease.
Pompe disease occurs in about 1 in every 40,000 births.
Glycogen storage disorder type II (Pompe) Fact Sheet (PDF)
Baby's First Test – Resources for parents and health care professionals about screening for Pompe disease
Acid Maltase Deficiency Association – A resource dedicated to funding research and promoting public awareness of Pompe disease
National Organization for Rare Disorders – Physician Guide to Pompe Disease
GeneReviews – Technical summary of Pompe disease
Mucopolysaccharidosis type I (MPS I)
MPS-I is an inherited disorder caused by an enzyme deficiency that leads to a buildup of complex sugars in the body's cells. This buildup can cause skeletal problems and intellectual disability. Early identification through screening and treatment can prevent disability.
MPS-I occurs in about 1 in every 100,000 births.
Mucopolysacchirdosis type I (MPS-I) Fact Sheet (PDF)
Baby's First Test – Resources for parents and health care professionals about MPS-I screening
National MPS Society – A resource dedicated to supporting research and families, as well as increasing public and professional awareness of MPS disorders
National Organization for Rare Disorders – Physician Guide to MPS-I
GeneReviews – Technical summary of MPS-I