Abstract
The establishment of a fibroblast bank from patients with biochemical alterations in the metabolism of aminoacids and organic acids has been initiated. The patients suffered from distinct variants of maple syrup urine disease, propionic acidaemia, methylmalonic acidaemia, lactic acidosis and hyperglycinuria. Thirty six human cell lines corresponding to patients with these diseases, their relatives and control individuals have been accumulated.
Publication types
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English Abstract
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Research Support, Non-U.S. Gov't
MeSH terms
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Acidosis / pathology
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Amino Acid Metabolism, Inborn Errors / pathology*
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Cell Line*
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Cells, Cultured
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Child
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Child, Preschool
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Fibroblasts* / enzymology
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Glycine / metabolism
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Humans
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Infant
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Infant, Newborn
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Lactates / metabolism
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Maple Syrup Urine Disease / pathology
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Metabolism, Inborn Errors / pathology*
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Methylmalonic Acid / metabolism
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Propionates / blood
Substances
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Lactates
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Propionates
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Methylmalonic Acid
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Glycine