Abstract
Background:
Ethylmalonic encephalopathy (EE) is a rare autosomal recessive metabolic disorder characterised by progressive encephalopathy, recurrent petechiae, acrocyanosis and chronic diarrhoea, with a fatal outcome in early in life.
Methods:
14 patients with EE were investigated for mutations in the ETHE1 gene.
Results:
Of the 14 patients, 5 were found to carry novel mutations.
Conclusions:
This work expands our knowledge of the causative mutations of EE.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Amino Acid Sequence
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Base Sequence
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Brain Diseases, Metabolic, Inborn / genetics*
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Brain Diseases, Metabolic, Inborn / metabolism
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Carnitine / analogs & derivatives
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Carnitine / metabolism
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Child
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Child, Preschool
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Cohort Studies
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DNA / chemistry
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DNA / genetics
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Female
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Humans
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Infant
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Male
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Mitochondrial Proteins / genetics*
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Models, Molecular
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Molecular Sequence Data
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Mutation, Missense*
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Nucleocytoplasmic Transport Proteins / genetics*
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Polymerase Chain Reaction
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Polymorphism, Single Nucleotide
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Sequence Alignment
Substances
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ETHE1 protein, human
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Mitochondrial Proteins
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Nucleocytoplasmic Transport Proteins
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acylcarnitine
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DNA
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Carnitine