Abstract
Five children with mitochondrial myopathy associated with depletion of muscle mtDNA are reported from the Departments of Neurology and Genetics and Development, Columbia University College of Physicians and Surgeons, New York, NY and other centers in Germany, Belgium and the U.S.
Highlights
Neurological involvement including muscle hypotonia, seizures, peripheral neuropathies, cerebellar signs, sensorineural hearing deficit, cerebral abnormalities, mental retardation; (2) craniofacial abnormalities; (3)
In a patient presenting with retinal abnormalities the search for a metabolic disorder will concentrate on (1) errors of lipid metabolism; (2) errors of peroxisomal functions; and (3) errors of mitochondrial functions including the respiratory chain
Five children with mitochondrial myopathy associated with depletion of muscle mtDNA are reported from the Departments of Neurology and Genetics and Development, Columbia University College of Physicians and Surgeons, New York, NY and other centers in Germany, Belgium and the U.S Symptoms manifested within or soon after the first year of life and muscle biopsies showed ragged red fibers and decreased respiratory chain activity
Summary
The diagnosis and management of inborn errors of metabolism associated with retinal degeneration are reviewed from the Clinique et Unit de Recherche de G6n6tique M6dicale, the Hopital des Enfants Malades and the Opthalmologic Department et Formation Associ6e de Recherches Claude. In a patient presenting with retinal abnormalities the search for a metabolic disorder will concentrate on (1) errors of lipid metabolism; (2) errors of peroxisomal functions; and (3) errors of mitochondrial functions including the respiratory chain. Kinderziekenhuis" Metabolic Department, Nieuwe Gracht 137, NL-3512 LK Utrecht, The. Kinderziekenhuis" Metabolic Department, Nieuwe Gracht 137, NL-3512 LK Utrecht, The This excellent review of the metabolic retinal degenerations includes case reports of the major errors of metabolism associated with retinal degeneration including abetalipoproteinemia, neuronal ceroid lipofuscinosis, classical and infantile Refsum diseases, hydroxydicarboxylic aciduria, Sjogren-Larsson syndrome, Kearns-Sayre syndrome and peroxisomal disorders
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