Medication Summary

Medications are necessary in oculocerebrorenal syndrome of Lowe (OCRL), or Lowe syndrome, to offset the renal losses of electrolytes and other substances.

Class Summary

These agents are used to correct disturbances in fluid and electrolyte homoeostasis or acid-base balance. They are also used to reestablish osmotic equilibrium of specific ions. Renal losses of calcium and phosphate may predispose to the development of osteomalacia and rickets.

Calcitriol (Rocaltrol)

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Used to manage rickets and osteomalacia. A synthetic vitamin D analog (1 α, 25-dihydroxycholecalciferol or 1 α, 25-dihydroxyvitamin D3) that is active in regulating the absorption of calcium from the intestinal tract and its utilization in the body.

Sodium citrate and citric acid (Bicitra)

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Systemic alkalizer solution used to treat renal tubular acidosis. Following ingestion, citrate salts are oxidized to bicarbonate. Each mL contains 1 mEq sodium ion and is equivalent to 1 mEq bicarbonate.

Phosphate salts (Neutra-Phos)

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Increases serum phosphate levels and is used to manage rickets and osteomalacia. Serum phosphate is important in regulating serum calcium concentration. In patients with increased urinary excretion of phosphorus and calcium, neutral phosphorus is necessary to offset these losses and to prevent osteomalacia and rickets. One g of phosphorus equals 32.29 mmol.

Class Summary

These are essential cofactors of fatty acid metabolism. Oral carnitine may be used to replace urinary losses. Its efficacy in altering the outcome of patients with oculocerebrorenal syndrome of Lowe is unclear.

Levocarnitine (Carnitor)

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A carrier molecule involved in the transport of long-chain fatty acids across the inner mitochondrial membrane.

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Media Gallery

The classic lenticular opacities in a female carrier for Lowe syndrome. Note the punctate cortical opacities in radical wedges. (Photo courtesy of Otis Paul, MD)

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Author

Stephen L Nelson, Jr, MD, PhD, FAACPDM, FAAN, FAAP, FANA Professor of Pediatrics, Neurology, Neurosurgery, and Psychiatry, Medical Director, Tulane Center for Autism and Related Disorders, Tulane University School of Medicine; Pediatric Neurologist and Epileptologist, Ochsner Hospital for Children; Professor of Neurology, Louisiana State University School of Medicine

Stephen L Nelson, Jr, MD, PhD, FAACPDM, FAAN, FAAP, FANA is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Neurology, American Academy of Pediatrics, American Epilepsy Society, American Medical Association, American Neurological Association, Association of Military Surgeons of the US, Child Neurology Society, Southern Pediatric Neurology Society

Disclosure: Nothing to disclose.

Coauthor(s)

Sherry Gu, MD Fellow in Pediatric Critical Care Medicine, Stanford University School of Medicine

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Chief Editor

Luis O Rohena, MD, MS, FAAP, FACMG Chief, Medical Genetics, San Antonio Military Medical Center; Associate Professor of Pediatrics, Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine; Associate Professor of Pediatrics, University of Texas Health Science Center at San Antonio

Luis O Rohena, MD, MS, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American Chemical Society, American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Additional Contributors

Cydney L Fenton, MD Director, Center for Diabetes and Endocrinology, Akron Children's Hospital

Cydney L Fenton, MD is a member of the following medical societies: American Academy of Pediatrics, American Diabetes Association, Endocrine Society, Pediatric Endocrine Society

Disclosure: Nothing to disclose.

Robert D Steiner, MD Clinical Professor, University of Wisconsin School of Medicine and Public Health; Editor-in-Chief, Genetics in Medicine; Chief Medical Officer, PreventionGenetics

Robert D Steiner, MD is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American College of Medical Genetics and Genomics, American Society of Human Genetics, Society for Inherited Metabolic Disorders, Society for Pediatric Research, Society for the Study of Inborn Errors of Metabolism

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: PreventionGenetics, Wisconsin, American College of Medical Genetics, Acer Therapeutics; Raptor, Retrophin; Censa Pharma; Biomarin; PreventionGenetics, Best Doctors, Health Advances, Precision for Health, E-scape Bio, PTC Therapeutics, CTX Alliance, Aeglea<br/>Serve(d) as a speaker or a member of a speakers bureau for: France Foundation, Medscape<br/>Received research grant from: Alexion<br/>Received income in an amount equal to or greater than $250 from: PreventionGenetics, State of Wisconsin, MCHS, Acer Therapeutics; Retrophin; Raptor Pharma; Censa Pharma; Biomarin; Prevention Genetics, E-Scape Bio, Best Doctors, Health Advances, Precision for Value, France Foundation, Medscape, PTC Therapeutics, Aeglea<br/>Travel Support for: Pfizer.

Melissa P Wasserstein, MD Associate Professor, Departments of Genetics and Genomic Sciences and Pediatrics, Mount Sinai School of Medicine

Melissa P Wasserstein, MD is a member of the following medical societies: American Society of Human Genetics

Disclosure: Nothing to disclose.

Amira Al-Uzri, MD, MCR Associate Professor of Pediatrics, Director, Pediatric Clinical Research Office, Director, Pediatric Clinical and Translational Research Center, Department of Pediatrics, Divison of Pediatric Kidney Services and Hypertension, Oregon Health and Science University School of Medicine

Amira Al-Uzri, MD, MCR is a member of the following medical societies: American Society of Nephrology, American Society of Pediatric Nephrology, American Society of Transplantation

Disclosure: Nothing to disclose.