What is MUCOPOLYSACCHARIDOSIS I-H; HURLER SYNDROME (MPS1-H)?

rare (1:100.000) autosomal recessive

Gibt es eine deutsche Bezeichnung?

Mukopolysaccharidose Typ 1H; Hurler-Syndrom

Disease	MUCOPOLYSACCHARIDOSIS I-H; HURLER SYNDROME (MPS1-H)
Synonym	MPS1-H
OMIM	607014 OMIM = Online Mendelian Inheritance of Men
Orphanet	93473
Protein (UniProt)	Alpha-L-iduronidase
ExPASy	3.2.1.76
Gene locus	4p16.3
ICD	E76.0
Summary	rare (1:100.000) autosomal recessive
Laboratory findings	alpha-Iduronidase dec (fibroblasts) Dermatan sulfate inc (urine) Heparan sulfate inc (urine) Mucopolysaccharides inc (urine)
Symptoms	flat depressed nasal bridge (saddle nose) mongolian spots behavior, abnormal or bizarre, confusion cardiomyopathy coarse facial features contractures, joints corneal clouding dysostosis multiplex glaucoma hearing defect, deafness hepatomegaly (large liver) hydrocephalus macrocephaly (large calvaria, >2 SD for age) mental retardation normal at birth obstructive airway disease otitis media, recurrent seizures splenomegaly (large spleen) swallowing difficulties Teeth: generalized defect or abnormalities blindness, visual loss, visual impairment cardiomyopathy, dilated corneal deposits diarrhea dysmorphism hirsutism hydrops fetalis hypertrichosis infections (severe or recurrent) inguinal hernia joint stiffness macroglossia, large/protuding tongue motor retardation onset, childhood short stature umbilical hernia