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Profound metabolic acidosis and oxoprolinuria in an adult

✍ Scribed by Michael J. Hodgman; James F. Horn; Christine M. Stork; Jeanna M. Marraffa; Michael G. Holland; Richard Cantor; Patti M. Carmel


Book ID
105718734
Publisher
Springer-Verlag
Year
2007
Tongue
English
Weight
168 KB
Volume
3
Category
Article
ISSN
1556-9039

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Six patients are described with a combination of early onset of neurological symptoms, gross cerebral changes and elevated concentrations of pyruvate and lactate in cerebrospinal fluid. Although at least five of the six patients appear to have a generalised defect in pyruvate metabolism, reflected i