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Abnormal Mitochondria (Muscle Biopsy) Psychomotor Regression Possibly Lactic Acidosis upon Stress or Infection Activity of Mitochondrial Complex II Decreased Progressive Leukoencephalopathy Extra Cuneiform Bone Broad Cuboid First Metatarsal Partial Duplication of Hallux Zygomatic Arch Hypoplasia Central Incisor Absent Midline Cleft of Tongue Normal Intelligence in Majority of Patients Death Often Secondary to Pneumonia or Congestive Heart Failure Thick, Relatively Tight Skin Inclusion Bodies in Fibroblasts Arylsulfatase A Increased Mucopolysacchariduria Normal to Mildly Increased Conical Bullet-Shaped Distal Ends of Phalanges Broadening of Wrist Tilted Distal Ends of Radius and Ulna Cortical Bone Erosion (Especially Proximal Femur) Irregular Contours of Pubis and Ischium Supra Acetabular Constriction Beaking of Vertebral Bodies T12-L3 Lower Thoracic Interpediculate Narrowness Sella Turcica Normal or Enlarged Osteopenia in Early Infancy Moderate Joint Limitation Clear to Faintly Hazy Corneas Thick Firm Earlobes High Narrow Forehead Minimal Splenomegaly Hurler-Like Body Configuration Progressive Failure to Thrive Birth Weight Less than Normal Deceleration of Linear Growth during First Year Birth Length Less than Normal Broad Spatulate Appearing Ribs Symptoms Noted at 2-3 Years Aryl-Sulfatase A Increased - 10-20x Iduronate Sulfatase Increased - 10-20x Beta Hexosaminidase Increased - 10-20x Small Irregular Carpal Bones Shortened Long Tubular Bones Broad Metaphyses Vertebral Beaking Absence of Dens Mild Retinopathy Wide, Slightly Short Ribs Short Thick Clavicles No Mucopolysacchariduria Carrier Frequency in Ashkenazi Jewish Population: 1 in 100 Caused by Mutations in the Mucolipin-1 Gene Urine Phospholipids Increased Lysosomal Hydrolases Normal Cytoplasmic Lamellar Concentric Inclusions Fibrous Dysplasia of the Cornea Cerebellar Atrophy in Older Patients Cerebral Dysmyelination Never Able to Walk Slowly Progressive Neurologic Deterioration Mutations in the SGSH Gene Heparan N Sulfatase Deficiency in Fibroblasts and Amniocytes Some Patients Have an Attenuated Phenotype Death Occurs in Second or Third Decade Mutations in the N-Acetyl-Alpha-D-Glucosaminidase Gene N-Acetyl-Alpha-D-Glucosaminidase Deficiency in Fibroblasts Progressive Neurodegeneration Enzyme Replacement Therapy Has Not Been Effective Severe Behavioral Problems at Age 3-4 Four Clinically Indistinguishable Biochemically Distinct Forms Metachromasia of White Blood Cells and Fibroblasts Excretion of Heparan Sulfate in Urine Mild Dysotosis Multiplex Clear Corneas Usually Normal Stature Severe Behavioral Problems with Onset at Age 3-4 Years Common Sleep Disturbances Slowing Mental Development by 1.5-3 Years of Age Urinary Excretion of Chondroitin-6-Sulfate Keratan Sulfate Excretion in Urine That Decreases with Age Adult Height: 82-115 cm Onset at Age 1-3 Years Appear Normal at Birth Beta-Galactosidase Deficiency in Fibroblasts and White Blood Cells Pointed Proximal Second through Fifth Metacarpals Mild to Severe Forms of Disease Survival to 20 Years in Severe Form Urinary Excretion of Dermatan Sulfate Arylsulfatase B Deficiency in Fibroblasts and White Blood Cells Broad, Irregular Metaphyses Small Flared Iliac Wings Anterior Wedging of L1 and L2 Large Omega-Shaped Sella Mildly Coarse Facies Growth Arrest at 2-4 Years of Age Adult Height 110-140 cm Wide Spectrum of Severity Chondroitin 4-, 6-Sulfate Excretion in Urine Coarse Metachromatic Granules in White Blood Cells