• Carmen Delgado, Carlos Macías, Maria de la Sierra García-Valdecasas, Manuel Pérez, Luis Ruiz del Portal, and Luis Manuel Jiménez.
• Department of Clinical Biochemistry, Virgen del Rocio University Hospital, Seville, Spain. cdpecellin@ole.com
• J. Child Neurol. 2007 Dec 1; 22 (12): 1405-7.

AbstractPropionic acidemia is a hereditary metabolic disease caused by a deficiency of enzyme propionyl-CoA carboxylase, which is involved in the catabolism of ramified amino acids, odd-chain fatty acids, and other metabolites; the deficiency of this enzyme leads to an accumulation of toxic substances in the body. There are various forms of clinical presentation (severe neonatal, chronic intermittent, or slow and gradual). The case presented in this study was of a slow and insidious evolution form that was diagnosed when the child was 9 months old. Intracranial magnetic resonance imaging showed a slight increase in the signal intensity in sequences measured in T2 in addition to a restriction of the diffusion at the level of both putamens, which, together with biochemical and genetic analyses, confirmed the diagnosis of propionic acidemia. After initiating treatment involving a diet that was low in proteins, carnitine, and biotin, and an open-formula diet of ramified amino acids, the patient made progress, showing signs of improved hypotonia and increased weight gain. His vomiting stopped, and ketoacidosis was corrected.

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