Abstract
Fumarase deficiency is a very rare inborn error of metabolism caused by decreased activity of fumarate hydratase enzyme. We describe a fumarase-deficient infant who presented with encephalopathy, metabolic crisis, psychomotor retardation, hypotonia, seizures, and facial dysmorphism. To our knowledge, this is the first Indian child to be described with fumarase deficiency.
MeSH terms
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Brain Diseases, Metabolic / diagnosis
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Brain Diseases, Metabolic / etiology*
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Developmental Disabilities / diagnosis
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Developmental Disabilities / etiology*
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Electroencephalography
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Fumarate Hydratase / deficiency
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Humans
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Infant
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Magnetic Resonance Imaging
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Male
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Metabolism, Inborn Errors / complications*
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Muscle Hypotonia / complications*
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Psychomotor Disorders / complications*