A mitochondrial DNA deletion presenting with corneal clouding and severe Fanconi syndrome

Background Mitochondrial cytopathies are a diverse group of disorders characterized by impaired mitochondrial energy production. Disease manifestations are protean and may include seemingly disparate findings. Case Diagnosis/Treatment Here we report a 5-year-old girl with the uncommon pairing of bil...

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Bibliographic Details
Published in:	Pediatric nephrology (Berlin, West) Vol. 27; no. 5; pp. 869 - 872
Main Authors:	Lee, Joyce J., Tripi, Laura M., Erbe, Richard W., Garimella-Krovi, Sudha, Springate, James E.
Format:	Journal Article
Language:	English
Published:	Berlin/Heidelberg Springer-Verlag 01-05-2012 Springer Springer Nature B.V
Subjects:	Acid-Base Imbalance - etiology Acidosis Acidosis - complications Bicarbonate Bicarbonates - therapeutic use Blood Brief Report Carbonates Child, Preschool Cornea Corneal dystrophy Corneal Opacity - etiology Corneal Opacity - genetics DNA, Mitochondrial - genetics Drug Resistance Electron transport Etiology Fanconi syndrome Fanconi Syndrome - complications Fanconi Syndrome - genetics Female Genetic screening Genetic testing Glucose Hearing Loss, Sensorineural - etiology Humans Intravenous administration Kidney Function Tests Lactic acid Leukocytes Medical screening Medicine Medicine & Public Health Metabolism Mitochondria Mitochondrial Diseases - complications Mitochondrial Diseases - genetics Mitochondrial DNA Nephrology Organic acids Patients Pediatrics Photophobia - etiology Pyruvic acid Sequence Deletion Supplementation Transplants & implants Uric acid Urine Urology Weight Loss Mitochondrial DNA deletion Fanconi syndrome Corneal dystrophy Mitochondrial disease Metabolic acidosis
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