TY - JOUR
T1 - Propionic acidemia with novel mutation presenting as recurrent pancreatitis in a child
AU - Choe, Jae Young
AU - Jang, Kyung Mi
AU - Min, So Yoon
AU - Hwang, Su Kyeong
AU - Kang, Ben
AU - Choe, Byung Ho
N1 - Publisher Copyright:
© 2019 The Korean Academy of Medical Sciences.
PY - 2019/12/1
Y1 - 2019/12/1
N2 - 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.
AB - 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.
KW - Child
KW - Pancreatitis
KW - Propionic Acidemia
UR - http://www.scopus.com/inward/record.url?scp=85076266510&partnerID=8YFLogxK
U2 - 10.3346/jkms.2019.34.e303
DO - 10.3346/jkms.2019.34.e303
M3 - Article
C2 - 31808324
AN - SCOPUS:85076266510
SN - 1011-8934
VL - 34
JO - Journal of Korean Medical Science
JF - Journal of Korean Medical Science
IS - 47
M1 - e303
ER -