Document Detail

Subacute presentation of propionic acidemia.
MedLine Citation:
PMID:  18174561     Owner:  NLM     Status:  MEDLINE    
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.
Carmen Delgado; Carlos Macías; Maria de la Sierra García-Valdecasas; Manuel Pérez; Luis Ruiz del Portal; Luis Manuel Jiménez
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of child neurology     Volume:  22     ISSN:  0883-0738     ISO Abbreviation:  J. Child Neurol.     Publication Date:  2007 Dec 
Date Detail:
Created Date:  2008-01-04     Completed Date:  2008-03-07     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  8606714     Medline TA:  J Child Neurol     Country:  Canada    
Other Details:
Languages:  eng     Pagination:  1405-7     Citation Subset:  IM    
Department of Clinical Biochemistry, Virgen del Rocio University Hospital, Seville, Spain.
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MeSH Terms
Acidosis / etiology
Amino Acids / administration & dosage
Biotin / administration & dosage
Brain / pathology
Carnitine / administration & dosage,  analogs & derivatives,  urine
Diagnosis, Differential
Diet, Protein-Restricted / methods
Disease Progression
Electrophoresis, Capillary
Gastroenteritis / etiology
Growth Disorders / etiology
Magnetic Resonance Imaging
Metabolism, Inborn Errors / blood,  diagnosis*,  diet therapy
Propionic Acidemia
Propionic Acids / urine*
Treatment Outcome
Vomiting / etiology
Reg. No./Substance:
0/Amino Acids; 0/Propionic Acids; 17298-37-2/propionylcarnitine; 541-15-1/Carnitine; 58-85-5/Biotin

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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