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신생아기에 진단된 미토콘드리아 호흡 사슬 결함 1례

Other Titles
 A Case of Mitochondrial Respiratory Chain Defect Diagnosed in the Neonatal Period 
Authors
 최경민  ;  권해식  ;  이진성  ;  이영목  ;  이철  ;  박민수  ;  남궁란  ;  이동우 
Citation
 Korean Journal of Perinatology (대한주산의학회잡지), Vol.14(1) : 50-55, 2003 
Journal Title
Korean Journal of Perinatology(대한주산의학회잡지)
ISSN
 1229-2605 
Issue Date
2003
MeSH
Mitochondrial respiratory chain defect ; Lactic acidosis ; Newborn
Keywords
Mitochondrial respiratory chain defect ; Lactic acidosis ; Newborn
Abstract
Mitochondrial diseases are classified into the three major categories, defects of fatly acid oxidation, defects of pyruvate metabolism, and defects of the respiratory chain, and all of these cause severe neuron-logic dysfunction in the newborn period. Defects of the mitochondrial respiratory chain present as recurrent apnea, seizures, congenital lactic acidosis, hypotonia, hepatic dysfunction and hypertrophic cardiomyopathy in the neonatal period. Laboratory findings of hyperlactataemia (>2.5mM), elevated lactate/ pyruvate (L/P) ratio (>20) and ketone body ratio (>2) suggest the diagnosis of mitochondrial respiratory chain defects. We report a case of mitochondrial respiratory chain defect diagnosed in the neonatal period presenting with multiorgan failure consisting of severe metabolic acidosis, comatous mental state, respiratory distress, hepatic dysfunction, renal failure with lactic acidosis (24mM), increased L/P ratios (55.6) and ketonuria (increased ratio of 3-hydroxybutyrate/acetoacetate).
Files in This Item:
T200307586.pdf Download
DOI
OAK-2003-01536
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
Yonsei Authors
Kwon, Hae Sik(권해식)
Namgung, Ran(남궁란) ORCID logo https://orcid.org/0000-0001-7182-9535
Park, Min Soo(박민수) ORCID logo https://orcid.org/0000-0002-4395-9938
Lee, Dong Woo(이동우)
Lee, Young Mock(이영목) ORCID logo https://orcid.org/0000-0002-5838-249X
Lee, Jin-Sung(이진성) ORCID logo https://orcid.org/0000-0002-1262-8597
Lee, Chul(이철)
Choi, Kyong Min(최경민)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/114696
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