title: Subacute presentation of propionic acidemia.
abstract: Propionic 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.
authors.affiliation: Department of Clinical Biochemistry, Virgen del Rocio University Hospital, Seville, Spain. cdpecellin@ole.com
authors.forename: Carmen
authors.initials: C
authors.lastname: Delgado
authors.forename: Carlos
authors.initials: C
authors.lastname: Macías
authors.forename: Maria
authors.initials: M
authors.lastname: de la Sierra García-Valdecasas
authors.forename: Manuel
authors.initials: M
authors.lastname: Pérez
authors.forename: Luis Ruiz
authors.initials: LR
authors.lastname: del Portal
authors.forename: Luis Manuel
authors.initials: LM
authors.lastname: Jiménez
mesh_terms: D000138:Acidosis / Q000209:etiology; D000596:Amino Acids / Q000008:administration & dosage; D001710:Biotin / Q000008:administration & dosage; D001921:Brain / Q000473:pathology; D002331:Carnitine / Q000008:administration & dosage / Q000031:analogs & derivatives / Q000652:urine; D003937:Diagnosis, Differential; D018753:Diet, Protein-Restricted / Q000379:methods; D018450:Disease Progression; D019075:Electrophoresis, Capillary; D005759:Gastroenteritis / Q000209:etiology; D006130:Growth Disorders / Q000209:etiology; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis* / Q000178:diet therapy; D011422:Propionates / Q000652:urine*; D056693:Propionic Acidemia; D016896:Treatment Outcome; D014839:Vomiting / Q000209:etiology
chemical_list: D000596:Amino Acids; D011422:Propionates; C003223:propionylcarnitine; D001710:Biotin; D002331:Carnitine