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Fructose-1,6-bisphosphatase deficiency presented with complex febrile convulsion

 Hyunjoo Lee  ;  Ahreum Kwon  ;  Ho-Seong Kim  ;  Jin-Sung Lee 
 Neuro Endocrinology Letters, Vol.39(8) : 533-536, 2019 
Journal Title
 Neuro Endocrinology Letters 
Issue Date
Fructose-1,6-bisphosphatase deficiency ; FBP1 ; Hypoglycemia ; Metabolic acidosis ; Lactic acidosis
Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare inborn error of metabolism affecting gluconeogenesis caused by FBP1 gene mutations. It could be more fatal to infants and children when glycogen reserves are insufficient. A 4-year-old girl was admitted with complex febrile convulsion. Initial laboratory results showed hypoglycemia, metabolic acidosis, and hyperlactatemia. Plasma amino acid and urine organic acid analyses showed increased levels of alanine and tricarboxylic acid cycle intermediates. However, she had similar clinical features, including confusion under severe hypoglycemia, two additional times over 6 months. Correct diagnosis could not be made because of nonspecific symptoms, and mitochondrial disorder was initially suspected. Clinical exome sequencing was performed, and compound heterozygous mutations of c.960_961insG and c.490G>A (p. Ser321ValfsTer13 and p. Gly164Ser) in the FBP1 gene were identified. This is the first Korean pediatric case of FBPase deficiency that initially presented with neurologic clinical features. Despite its very low prevalence in Far-East Asian countries, FBPase deficiency should be considered in children with repeated clinical features of metabolic acidosis with hypoglycemia.
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1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
Kwon, Ah Reum(권아름) ORCID logo https://orcid.org/0000-0002-9692-2135
Kim, Ho Seong(김호성) ORCID logo https://orcid.org/0000-0003-1135-099X
Lee, Jin-Sung(이진성) ORCID logo https://orcid.org/0000-0002-1262-8597
Lee, Hyun Joo(이현주) ORCID logo https://orcid.org/0000-0002-1432-0449
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