LYSOSOMAL STORAGE DISEASES
MUCOPOLYSACCHARIDOSES
HURLER SYNDROME
AUTO R
LACK ALPH – L-IDURONIDASE
CORNEAL CLOUDING, MR, DWARFING, EARLY DEATH (AGE 12)
ALDER BODIES=MIUCOPOLYSACCHARIDE DEPOSITES
SANFILIPPO
SEVERE NERVOUS SYSTEM DISORDERS
HIGH HEPARIN SULFATE
SCHEIE SYNDROME
CORNEAL CLOUDING, STIFF JOINTS, AORTIC VALVE PROBLEMS
NL IQ, NL LIFESPAN
SLY SYNDROME
H-S MEGALLY
HIGH DRMATAN SULFATE AND HEPARAN SULFATE
HUNTER SYNDROME
ONLY ONE X-LINKED R—-PRIMARILY YOUNG MALES
VARIABLE PHENOTYPE
SHINGOLIPIDOSES
TAY-SACHS
EASTERN EUROPEAN JEWS
MR, BLINDNESS, WEAKNESS, SEIZURES
GAUCHER’S
H-S MEGALLY, MR, CAN LIVE QUITE LONG
METACHROMIC LEUKODYSTROPHY
USUALLY PRESENTS BEFORE 30 MONTHS
DYSPHAGIA AND DYSARTHRIA
MR, AND DEMYELINATION
PROGRESSIVE PARALYSIS AND DEMENTIA
FABRY’S Dz
ONLY ONE X-LINKED R
NIEMANN-PICK Dz
ASHKENAZI JEWS
H-S MEGALLY, MR, FATAL IN EARLY LIFE
FARBER’S Dz
PRESENTS IN FIRST 3-4 MONTHS
HOARSENESS, APHONIA, BROWNISH DESQUAMATING DERMATITIS–SQ NODULES