36801 to 36900 most common queries

List represents a sample of symptoms, diseases, and other queries. Updated weekly.

• Decreased Activity of Mitochondrial Respiratory Chain Complex I
• 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