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Revista Ecuatoriana de Neurología

versión On-line ISSN 2631-2581versión impresa ISSN 1019-8113


PENUELA-VASQUEZ, Oscar; ESPINOSA-GARCIA, Eugenia; ECHEVERRI-PENA, Olga  y  GUEVARA-MORALES, Johanna. Hyperlisinemia As A Suggestive Finding Of Propionic Acidemia. Case Report. Rev Ecuat Neurol [online]. 2019, vol.28, n.1, pp.95-100. ISSN 2631-2581.


Propionic acidemia (AP) is an organic acidemia (AO) with clinical presentation of neonatal onset or late. Caused by deficiency of the enzyme propionil-CoA carboxilasa that causes accumulation of propionic acid and metabolites related to propionyl-CoA in tissues. Hyperglycinemia is characteristic, but hyperlysinemia may occur. This work describes a clinical case of AP of neonatal onset with fatal outcome and striking alteration of amino acids.

Clinical case:

Female newborn (RN) admitted in the neonatal unit on the third day of life due to hypoactivity, vomiting and lethargy. Subsequent respiratory distress and cardiac arrest occurred, dying before a biochemical diagnosis was established. Initial paraclinics evidenced metabolic acidosis, leukopenia, hypoglycemia, later documented hyperglycinemia, hypercystinemia and severe hyperlysinemia. The organic acid chromatography in urine identified 3-hydroxy-propionic acid, methyl citrate and propionylglycine among other toxic metabolites, confirming the diagnosis.


AP is an inborn error of autosomal recessive metabolism of low incidence. The presence of severe metabolic acidosis, pancytopenia, hypoglycemia and family history should alert about this diagnosis. Additionally, although the definitive biochemical diagnosis is organic acids in urine, the presence of hyperammonemia, hyperglycinemia and hyperlysinemia can be highly suggestive of this disorder.

Palabras clave : Propionic acidemia; Organic acidemia; Neonatal onset; Hyperglycinemia; Hyperlysinemia; Inborn errors of metabolism..

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