Propionic Acidemia with Novel Mutation Presenting as Recurrent Pancreatitis in a Child
Journal of Korean Medical Science
;
: 303-2019.
Artículo
en Inglés
| WPRIM
| ID: wpr-782458
ABSTRACT
Propionic acidemia (PA) is a rare organic acidemia resulting from a deficiency of the mitochondrial enzyme propionyl-coenzyme A carboxylase. Most cases are diagnosed after the detection of metabolic abnormalities—such as hyperammonemia, metabolic acidosis, and ketosis—associated with complaints of vomiting, feeding difficulties, and hypotonia during the neonatal period. However, in rare late-onset cases, mild or vague symptoms make the diagnosis more challenging. Even though acute pancreatitis is relatively uncommon in children, it can occur in association with PA. We present the case of a 4-year-old child who was admitted owing to the complaint of recurrent pancreatitis and had not previously been diagnosed with having metabolic disease. During inpatient treatment for acute pancreatitis, convulsions occurred with concomitant hyperammonemia, metabolic acidosis, coagulopathy, and shock 1 week after the administration of total parenteral nutrition. He was diagnosed to have PA after a metabolic work-up and confirmed to have novel mutation by molecular genetic analysis. Because children with PA may have acute pancreatitis, although rare, vomiting and abdominal pain should raise a suspicion of acute pancreatitis. On the contrary, even among children who have never been diagnosed with a metabolic disease, if a child has recurrent pancreatitis, metabolic pancreatitis caused by organic acidemia should be considered.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Pancreatitis
/
Convulsiones
/
Choque
/
Acidosis
/
Vómitos
/
Dolor Abdominal
/
Nutrición Parenteral Total
/
Hiperamonemia
/
Metilmalonil-CoA Descarboxilasa
/
Diagnóstico
Tipo de estudio:
Estudio diagnóstico
Límite:
Niño
/
Child, preschool
/
Humanos
Idioma:
Inglés
Revista:
Journal of Korean Medical Science
Año:
2019
Tipo del documento:
Artículo
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