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[Mitochondrial acetoacetyl-CoA thiolase deficiency: neonatal onset].

Authors
  • Cubillo Serna, I
  • Suárez Fernández, J
  • Merino Arribas, J M
  • Díaz Ruiz, J
  • Bustamante Hervás, C
  • De Frutos Martínez, C
Type
Published Article
Journal
Anales de pediatría (Barcelona, Spain : 2003)
Publication Date
Oct 01, 2007
Volume
67
Issue
4
Pages
381–384
Identifiers
PMID: 17949650
Source
Medline
License
Unknown

Abstract

We present the case of a 4-day-old newborn with serious dehydration, polypnea, hypertonus and lethargy. Blood analysis showed severe metabolic acidosis with ketonemia, ketonuria and elevation of the GAP anion. Urine analysis revealed increased excretion of 2-methyl-3-hydroxybutyrate acid, tiglycine, and 2-methylacetoacetate acid. Neonatal onset of mitochondrial acetoacetyl-CoA thiolase (T2) deficiency is exceptional. Most patients have no clinical symptoms in the neonatal period. This entity should be considered in patients with acute metabolic acidosis and ketosis with normal glycemia and aciduria. The urine contains large amounts of 2-methylacetoacetate and its decarboxylation products. In the neonatal period, this inherited disorder of metabolism can produce severe hydroelectrolyte disorders in the form of a gradual process or acute episodes, which can occasionally be fatal.

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