Prenatal diagnosis of disorders of energy metabolism

Seminars in Neurology

Volumn 21, Issue 3, 2001, Pages 269-273

  Robinson, B H ^a  

^a HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

Author keywords

Mitochondrial disease; Prenatal diagnosis

Indexed keywords

CELL NUCLEUS DNA; MITOCHONDRIAL DNA;

DIAGNOSTIC PROCEDURE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENERGY METABOLISM; GENE EXPRESSION; HUMAN; MITOCHONDRIAL MYOPATHY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RESPIRATORY CHAIN; REVIEW; TISSUE SPECIFICITY;

EDUCATION, MEDICAL, CONTINUING; ENERGY METABOLISM; FEMALE; HUMANS; MITOCHONDRIAL DISEASES; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 0034780656     PISSN: 02718235     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2001-17944     Document Type: Review

References (28)

1. 1) α subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency
2. First prenatal diagnosis of defects in the HsPDX1 gene encoding protein X, an additional lipoyl-containing subunit of the human pyruvate dehydrogenase complex
3. Prenatal diagnosis of pyruvate carboxylase deficiency
4. Prenatal diagnosis of pyruvate carboxylase deficiency by direct measurement of catalytic activity on chorionic villi samples
5. The use of skin fibroblast cultures in the detection of respiratory chain defects in patients with lacticacidemia
6. Deficiency of respiratory chain complex I is a common cause of Leigh disease
7. Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects
8. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency
9. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
10. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
11. Genetic mapping of Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency
12. A mutation in the human heme A: Farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency
13. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene
14. A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Québec
15. Prenatal diagnosis of systemic disorders of the respiratory chain in cultured amniocytes and chorionic villus fibroblasts by studying the formation of lactate and pyruvate
16. Complex approach to prenatal diagnosis of cytochrome c oxidase deficiencies
17. Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion
18. Role of adenine nucleotide translocator 1 in mtDNA maintenance
19. Evidence from human oocytes for a genetic bottleneck in an mtDNA disease
20. MELAS and MERRF: The relationship between maternal mutation load and the frequency of affected offspring
21. Heteroplasmic mtDNA mutation (T→G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high
22. The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria
23. The 8993 mtDNA mutation: Heteroplasmy and clinical presentation in three families
24. Cytoplasmic transfer of the mtDNA nt8993 T→G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio
25. 0 cells completely lacking mtDNA
26. Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue or age related variation
27. Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993
28. Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA