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Intestinal Uptake of Zinc Decreased Mental Lethargy Secondary Sexual Characteristics in Males Delayed Testosterone Decreased in Males Ball-Shaped Toes Short Cuboidal Metacarpals Nine Carpal Bones Short Thumbs and Fingers Very Short Fibulae Joint Dislocations - Elbow Knee Ankle High Disease Prevalence Among French Canadians Ulcerations of Distal Extremities Patchy Anhidrosis Neurogenic Joint Degeneration Autonomic Involvement Not in All Cases Absence of Cutaneous Sensory Receptors and Fibers Some Loss of Unmyelinated Fibers Severe Loss of Myelinated Fibers (Sural Nerve Biopsy) Gag Reflex Impaired Corneal Reflex Impaired Trunk May be Involved Later Impaired Sensation in Distal Extremities Mild Metabolic Acidosis Urine and Plasma Ketones Absent to Trace Onset Precipitated by Fasting or Illness Most Common Disorder of Fatty Acid Oxidation (1 in 13,000 Births) Acylglycinuria Blood Ammonia Mildly Elevated Developmental Delay (if Untreated) Creatine Kinase in Patients with Muscle Involvement Increased Exercise-Induced Myoglobinuria in Adults Rhabdomyolysis with Exercise Muscle Stiffness Muscle Weakness Associated with Fasting or Infection Majority of POR Deficiency Patients Have an ABS-Like Phenotype See Also Antley Bixler Syndrome with Normal Steroidogenesis Pregnenolone Increased Adrenocorticotropin Mildly Increased 17-Hydroxyprogesterone Elevated Blunted Cortisol Response to Adrenocorticotropic Hormone Baseline Cortisol Normal Elbow Synostosis Maternal Estriol Low Maternal Virilization - Midpregnancy Single Urogenital Orifice Fused Labia Mutation in the CYP11B1 Gene 11-Deoxycortisol Increased 11 Deoxycorticosterone Increased Rudimentary Uterus and Vagina Fused Labial-Scrotal Folds Ambiguous Genitalia due to Virilization Frontal Proboscis High Frequency in Equatorial Africa Pigmentation of Hair Bulbs upon Incubation with Tyrosine Irides Blue Gray to Light Brown Gene Frequency in Northwest Puerto Rico 1 in 18 Hair Color White to Brown Freckles in Sun-Exposed Areas Tanning Possible Creamy White Skin Pigmented Reticuloendothelial Cells Absent Dense Bodies In Platelets Tyrosinase-Positive Hair Bulbs Iris Color Blue to Brown Macular Translucency Urinary Cyclic AMP Response to PTH Administration Normal or Increased Urine 17-Ketosteroids Normal Decreased Serum 18-OHB Ratio of Corticosterone : 18-Hydroxycorticosterone Increased Death by Age 5 Average Age of Onset 6 Months Mutations in the GFAP Gene Glial Fibrillary Acidic Protein in Astrocytes Presence of Rosenthal Fibers in Astrocytes Coarsened Pattern of Sulci and Gyri Onset of Joint Symptoms in 3rd-4th Decade Urine Turns Dark on Standing and Alkalinization Liver Homogentisate-1,2-Dioxygenase Activity Decreased Urine Homogentisic Acid Increased Homogentisic Acid Increased Lumbar Flexion Decreased Chronic Joint Pain Pigmentation of the Ear Cartilage Height Loss Secondary to Spinal Changes Ochronotic Prostate Stones Sensitivity to Valproic Acid Toxicity Death Usually by Age 3 Years Onset in Infancy after Normal Birth and Neonatal Period DNA Polymerase Gamma Activity Decreased Abnormal Visual Evoked Potential Abnormal Bile Duct Architecture Hepatocyte Dropout Microvesicular Steatosis (Biopsy) Slow-Frequency High-Amplitude Waves with High-Frequency Polyspikes Pseudolaminar Spongiform Changes Sudden-Onset Drug-Resistant Seizures Infections May Precipitate Ketotic Episodes Onset at Age 5-24 Months Urine 2-Butanone Increased