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RESUMEN Introducción: La acidemia propiónica (AP) es una acidemia orgánica (AO) con presentación clínica de inicio neonatal o de forma tardía. Causada por deficiencia de la enzima propionil-CoA carboxilasa que ocasiona acumulación de ácido propiónico y metabolitos relacionados con propionil-CoA en los tejidos. Es característica la hiperglicinemia, pero puede presentarse hiperlisinemia. Este trabajo describe un caso clínico de AP de inicio neonatal con desenlace fatal y alteración llamativa de los aminoácidos. Caso clínico: Recién nacido (RN) femenina ingresa a unidad neonatal al tercer día de vida por hipoactividad, vómito y letargia. Posterior dificultad respiratoria y realiza paros cardiacos, falleciendo antes de establecer un diagnóstico bioquímico. Paraclínicos iniciales evidenciaron acidosis metabólica, leucopenia, hipoglicemia, posteriormente se documenta hiperglicininemia, hipercistinemia y severa hiperlisininemia. La cromatografía de ácidos orgánicos en orina identificó ácido 3-hidroxi-propionico, metilcitrato y propionilglicina entre otros metabolitos tóxicos, confirmando el diagnóstico. Conclusiones: La AP es un error innato del metabolismo autosómico recesivo de baja incidencia. La presencia de acidosis metabólica severa, pancitopenia, hipoglicemia y antecedentes familiares deben alertar sobre este diagnóstico. Adicionalmente, aunque el diagnóstico bioquímico definitivo son los ácidos orgánicos en orina, la presencia de hiperamonemia, hiperglicinemia e hiperlisinemia pueden ser altamente sugestivas de este trastorno.
ABSTRACT Introduction: 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. Conclusions: 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.
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Cow milk allergy can be defined as an adverse immunologic reactions to cow milk protein. The term is often mistakenly applied to other causes of milk intolerence, such as lactase deficiency and galactosemia, which must be differenciated and excluded. We have experienced 10 children of cow milk allergy at neonatal onset who had suffered from G-I symtoms, such as diarrhea, irritability, weight loss, vomiting and abdominal distension. One half of this patients had family history of allergic diseas. All patients have positive specific IgE RAST to cow's milk protein, milk elimination test and milk challenge test. Brest milk feeding and soy bean formula feeding and soy bean formula feeding have started after diagnosis and then gastrointestinal symtoms and signs of all patients are improved but other allergic diseases are combined in 5 children.