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Deficiency of mitoc...
Deficiency of mitochondrial ATP synthase of nuclear genetic origin.
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Sperl, W (författare)
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Jesina, P (författare)
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Zeman, J (författare)
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Mayr, J A (författare)
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Demeirleir, L (författare)
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VanCoster, R (författare)
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Pícková, A (författare)
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Hansíková, H (författare)
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Houst'ková, H (författare)
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Krejcík, Z (författare)
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Koch, J (författare)
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Smet, J (författare)
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Muss, W (författare)
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- Holme, Elisabeth, 1947 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för klinisk kemi och transfusionsmedicin,Institute of Biomedicine, Department of Clinical Chemistry and Transfusion Medicine
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Houstek, J (författare)
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(creator_code:org_t)
- Elsevier BV, 2006
- 2006
- Engelska.
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Ingår i: Neuromuscular disorders : NMD. - : Elsevier BV. - 0960-8966. ; 16:12, s. 821-9
- Relaterad länk:
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- We present clinical and laboratory data from 14 cases with an isolated deficiency of the mitochondrial ATP synthase (7-30% of control) caused by nuclear genetic defects. A quantitative decrease of the ATP synthase complex was documented by Blue-Native electrophoresis and Western blotting and was supported by the diminished activity of oligomycin/aurovertin-sensitive ATP hydrolysis in fibroblasts (10 cases), muscle (6 of 7 cases), and liver (one case). All patients had neonatal onset and elevated plasma lactate levels. In 12 patients investigated 3-methyl-glutaconic aciduria was detected. Seven patients died, mostly within the first weeks of life and surviving patients showed psychomotor and various degrees of mental retardation. Eleven patients had hypertrophic cardiomyopathy; other clinical signs included hypotonia, hepatomegaly, facial dysmorphism and microcephaly. This phenotype markedly differs from the severe central nervous system changes of ATP synthase disorders caused by mitochondrial DNA mutations of the ATP6 gene presenting mostly as NARP and MILS.
Nyckelord
- Adenosine Triphosphate
- metabolism
- Adolescent
- Age of Onset
- Cardiomyopathy
- Hypertrophic
- Familial
- enzymology
- genetics
- physiopathology
- Cell Nucleus
- genetics
- Child
- Child
- Preschool
- Face
- abnormalities
- Female
- Genetic Predisposition to Disease
- genetics
- Hepatomegaly
- enzymology
- genetics
- physiopathology
- Humans
- Infant
- Infant
- Newborn
- Lactic Acid
- blood
- Male
- Microcephaly
- enzymology
- genetics
- Mitochondria
- enzymology
- genetics
- Mitochondrial Diseases
- enzymology
- genetics
- physiopathology
- Mitochondrial Encephalomyopathies
- enzymology
- genetics
- physiopathology
- Mitochondrial Proton-Translocating ATPases
- deficiency
- genetics
- Syndrome
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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Till lärosätets databas
- Av författaren/redakt...
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Sperl, W
-
Jesina, P
-
Zeman, J
-
Mayr, J A
-
Demeirleir, L
-
VanCoster, R
-
visa fler...
-
Pícková, A
-
Hansíková, H
-
Houst'ková, H
-
Krejcík, Z
-
Koch, J
-
Smet, J
-
Muss, W
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Holme, Elisabeth ...
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Houstek, J
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visa färre...
- Artiklar i publikationen
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Neuromuscular di ...
- Av lärosätet
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Göteborgs universitet