منابع مشابه
Molecular mechanisms in mitochondrial DNA depletion syndrome.
Depletion of mitochondrial DNA (mtDNA) appears to be an important cause of mitochondrial dysfunction in neonates and infants. We have identified another child in whom depletion of mtDNA was demonstrated in liver and serial skeletal muscle biopsies. A primary myoblast culture from the patient initially showed normal levels of mtDNA, but there was a progressive loss of mtDNA in later cell passage...
متن کاملMitochondrial DNA depletion syndrome causing liver failure.
BACKGROUND Mitochondrial DNA depletion syndromes are disorders of Mitochondrial DNA maintenance causing varied manifestations, including fulminant liver failure. CASE CHARACTERISTICS Two infants, presenting with severe fatal hepatopathy. OBSERVATION Raised serum lactate, positive family history (in first case), and absence of other causes of acute liver failure. OUTCOME Case 1 with homozy...
متن کاملNavajo neurohepatopathy: a mitochondrial DNA depletion syndrome?
Navajo neurohepatopathy (NNH) is an autosomal recessive disease of full-blooded Navajo children living in the Navajo Reservation of southwestern United States. Clinical features of NNH include peripheral and central nervous system involvement, acral mutilation, corneal scarring or ulceration, liver failure, and metabolic and immunologic derangement. The cause of NNH is unknown, but the clinical...
متن کاملMitochondrial DNA Depletion
Keywords Disease name Definition/diagnostic criteria Differential diagnosis Etiology Clinical description Frequency Diagnostic methods Genetic counselling Prenatal diagnosis Management Unresolved questions References Abstract The mtDNA depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues...
متن کاملAdult Mitochondrial DNA Depletion Syndrome with Mild Manifestations
Mitochondrial DNA depletion syndrome (MDS) is usually a severe disorder of infancy or childhood, due to a reduced copy number of mtDNA molecules. MDS with only mild, nonspecific clinical manifestations and onset in adulthood has not been reported. A 47-year-old Caucasian female with short stature and a history of migraine, endometriosis, Crohn's disease, C-cell carcinoma of the thyroid gland, a...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 2002
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-16-11-3