Biochemical and clinical features of the mucopolysaccharidoses

Type	Common name	Inheritance	Enzyme deficient	Genes	Substrate accumulated	Usual age at diagnosis	Key distinct findings
Skeletal disease, soft tissue storage, and a range of CNS disease
MPS I	Hurler (severe)	AR	Alpha-L-iduronidase	IDUA	Heparan sulfate, dermatan sulfate	1 to 2 years	Developmental delay, severe coarse facies, hepatosplenomegaly, airway obstruction, dysostosis multiplex, often placid and loving, death by age 10 years
	Hurler-Scheie (intermediate)					1 to 5 years	Micrognathia, toe walking, moderate coarse facies, possible normal intelligence, death by 20s
	Scheie (least severe form)					3 to 15 years	Aortic valve, joint disease, corneal clouding, normal facies, death in decades
MPS II	Hunter (severe)	X linked	Iduronate sulfatase	IDS	Heparan sulfate, dermatan sulfate	1 to 3 years	No corneal clouding, physical disease similar to MPS I, aggressive behavior and developmental delay
	Hunter (mild)					1 to 5 years	Normal or near-normal intelligence
MPS VII	Sly	AR	Beta-glucuronidase	GUSB	Heparan sulfate, dermatan sulfate	Birth to 5 years	Variable intermediate presentation similar to MPS I, death in teens
	Fetal hydrops					In utero to birth	Hydrops in utero, lethal
	Mild					Teens to 20s	Mild skeletal disease with death in decades
Skeletal disease and soft tissue storage without CNS disease
MPS VI	Maroteaux-Lamy (severe)	AR	N-acetylgalactosamine-4-sulfatase (arylsulfatase B)	ARSB	Dermatan sulfate	1 to 5 years	Like MPS I without CNS disease, pachymeningitis cervicalis, death in teens and 20s, can have corneal clouding
	Maroteaux-Lamy (mild)					3 to 12 years	Death in decades
Skeletal, cartilage, and ligament disease primarily; no CNS disease
MPS IV A	Morquio type A	AR	N-acetylgalactosamine-6-sulfatase	GALNS	Keratan sulfate	1 to 5 years for severe forms	Skeletal disease (similar to spondyloepiphysial dysplasia) with short stature, hip dysplasia, scoliosis, ligamentous laxity, corneal opacities
MPS IV B	Morquio type B		Beta-galactosidase	GLB1			Skeletal disease with short stature
MPS IX	Natowicz syndrome		Hyaluronidase	HYAL1	Hyaluronan	Only 1 case reported	Nodular synovium, popliteal cyst, large-joint effusion
CNS disease primarily, with less skeletal and soft-tissue disease
MPS III A	Sanfilippo A	AR	Heparan N-sulfatase	SGSH	Heparan sulfate	2 to 6 years	Aggressive behavior followed by progressive neurologic decline
MPS III B	Sanfilippo B		Alpha-N-acetylglucosaminidase	NAGLU
MPS III C	Sanfilippo C		Heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase	HGSNAT
MPS III D	Sanfilippo D		N-acetylglucosamine-6-sulfatase	GNS

CNS: central nervous system; MPS: mucopolysaccharidoses; AR: autosomal recesssive; IDUA: iduronidase alpha-L-; IDS: iduronate 2-sulfatase; GUSB: glucuronidase beta; ARSB: arylsulfatase B; GALNS: galactosamine (N-acetyl)-6-sulfatase; GLB1: galactosidase beta 1; HYAL1: hyaluronidase 1; SGSH: N-sulfoglucosamine sulfohydrolase; NAGLU: N-acetyl-alpha-glucosaminidase; CoA: coenzyme A; HGSNAT: heparan-alpha-glucosaminide N-acetyltransferase; GNS: glucosamine (N-acetyl)-6-sulfatase.

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خرید پکیج

Biochemical and clinical features of the mucopolysaccharidoses