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DiMauro, S; Garone, C
Seminars in fetal & neonatal medicine, 08/2011, Letnik: 16, Številka: 4Journal Article
Summary Two major groups of inborn errors of energy metabolism are reviewed –glycogenoses and defects of the mitochondrial respiratory chain – to see how often these disorders present in fetal life or neonatally. After some general considerations on energy metabolism in the pre- and postnatal development of the human infant, different glycogen storage diseases and mitochondrial encephalomyopathies are surveyed. General conclusions are that: (i) disorders of glycogen metabolism are more likely to cause ‘fetal disease’ than defects of the respiratory chain; (ii) mitochondrial encephalomyopathies, especially those due to defects of the nuclear genome, are frequent causes of neonatal or infantile diseases, typically Leigh syndrome, but usually do not cause fetal distress; (iii) notable exceptions include mutations in the complex III assembly gene BCS1L resulting in the GRACILE syndrome (growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death), and defects of mitochondrial protein synthesis, which are the ‘new frontier’ in mitochondrial translational research.
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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