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반복적인 구토 및 간헐적 의식 변화를 주소로 진단된 Ornithine Transcarbamylase Deficiency 여아 1례
김진아,김진섭,허림,조성윤,진동규,Kim, Jin Ah,Kim, Jin Sup,Huh, Rimm,Cho, Sung Yoon,Jin, Dong Kyu 대한유전성대사질환학회 2015 대한유전성대사질환학회지 Vol.15 No.3
저자들은 출생 직후에서 생후 7개월까지는 특별한 과거력 없이 건강하게 지내던 여아에서 생후 11개월에 반복적인 구토 및 간헐적인 의식변화와 경련으로 시행한 검사 결과 고암모니아 혈증 및 소변 orotic acid의 증가를 통해 OTC 결핍증을 진단하고, 분자 유전자 검사로 418번째 염기인 G가 C로 치환되어 140번 아미노산이 alanine에서 proline으로 바뀌는 돌연변이(p. Ala140Pro)를 확인한 1례를 경험하였기에 보고하는 바이다. 본 증례의 돌연변이는 환아의 부모 유전자 분석 결과 정상 소견으로 de novo mutation으로 사료된다. 환아는 출생 후 수 개월간 큰 이상 없이 성장 및 발달을 보였으나 생후 7개월 경부터 주기적인 구토 증세를 보였던 지발형 OTC 결핍증에 해당한다. 진단 후 arginine 및 phenylbutylate를 지속적으로 복용하며 저단백 식이를 유지하는 보존적 치료를 지속하여 현재 발달 및 성장 속도 양호하며 일상생활에 문제없이 지내고 있다. 따라서 출생 후 수개월간 특이 질환력이 없는 환아, 특히 여아에서 주기적인 구토, 기면, 경련 및 혼수 등의 증상을 보일 때 지발형 OTC 결핍증과 같은 대사질환을 의심할 수 있어야 한다. 본 증례는 반복적인 구토 및 의식변화를 보인 기저질환 없는 11개월 여아에서 OTC 결핍증을 진단하고 즉각적인 대처를 통해 7세까지 심각한 신경학적 장애 없이 정상적인 성장과 발달을 보인 환자를 보고하는 바이다. Ornithine transcarbamylase (OTC) deficiency is a rare X-linked genetic disorder of urea synthesis in newborns. It is the most common urea cycle disorder and leads to elevated levels of ammonia in the blood. Excessive ammonia can cause various symptoms, including vomiting, lethargy, and coma. Boys have a more serious form of OTC deficiency than girls. If not treated immediately, severe OTC deficiency can lead to neurologic abnormalities, hyperammonemic coma, and death. Because late-onset OTC deficiency, which is more common in girls, presents mild symptoms, it is easy to miss diagnosis and prompt treatment. We describe an 11-month-old girl who presented periodic vomiting, intermittent lethargy, and seizure. She was diagnosed with OTC deficiency by elevated serum ammonia and urine orotic acid levels. Genetic analysis of the OTC gene revealed a missense mutation in exon 5 (c.418G>C). We reported an experience of exact diagnosis and successful treatment of late-onset OTC deficiency in our patient.
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Ornithine Transcarbamylase Deficiency 1례
이윤희(Yoon Hee Lee),오세욱(Se Wook Oh),이종군(Chong Guk Lee,),김상우(Sang Woo Kim) 대한소아신경학회 1996 대한소아신경학회지 Vol.3 No.2
Ornithine Transcarbamylase(OTC) Deficiency is the most common inborn error of the urea cycle in infants. It is responsible for lethal neonatal hyperammonemia in males. The affected infants are manifested by vomiting, tachypnea, lethalgy and hyperammonic coma that often leads to death. We report the male patient who presented after 3 days of age with OTC deficiency. In this parient, the plasma ammonemia was controlled by the use of benzoate-phenylacetate-arginine regimen and the peritoneal dialysis.
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Hye-Ran Yoon 대한약학회 2007 Archives of Pharmacal Research Vol.30 No.3
A rapid dried-filter paper plasma-spot analytical method was developed to quantify organic acids, amino acids, and glycines simultaneously in a two-step derivatization procedure with good sensitivity and specificity. The new method involves a two-step trimethylsilyl (TMS) - trifluoroacyl (TFA) derivatization procedure using GC-MS/ selective ion monitoring (GC-MS/SIM). The dried-filter paper plasma was fortified with an internal standard (tropate) as well as a standard mixture of distilled water and methanol. Methyl orange was added to the residue as an indicator. N-methyl-N-(trimethylsilyl-trifluoroacetamide) and N-methyl-bis-trifluoroacetamide were then added and heated to 60oC for 10 and 15 min to produce the TMS and TFA derivatives, respectively. Using this method, the silylation of carboxylic functional groups was carried out, which was followed by the trifluoroacyl derivatization of the amino functional group. The derivatives were analyzed by GC-MS/SIM. A calibration cure showed a linear relationship for the target compounds between concentrations of 10-500 ng/mL. The limit of detection and quantification on a plasma spot were 10-90 ng/mL (S/N=9) and 80-500 ng/ mL, respectively. The correlation coefficient ranged from 0.938 and 0.999. When applied to the samples from positive patients, the method clearly differentiated normal subjects from the patients with various metabolic disorders such as PKU, MSUD, OTC and a Propionic Aciduria. The new developed method might be useful for making a rapid, sensitive and simultaneous diagnosis of inherited organic and amino acid disorders. In addition, this method is expected to be an alternative method for screening newborns for metabolic disorders in laboratories where expensive MS/MS is unavailable.
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