• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.15 no.3
• /
• pp.155-159
• /
• 2015

Citrin deficiency (OMIN #605814) is an autosomal recessive disorder caused by the SLC25A13 gene mutation with abnormal biochemical findings, including increased serum ammonia, citrulline, arginine, galactose, serum threonine-to-serine ratio, serum pancreatic secretory trypsin inhibitor, and alpha-fetoprotein. Citrin deficiency can manifest in three ways: in newborns as neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), in older children as failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), and in adults as citrullinemia type 2 (CTLN2) with recurrent hyperammonemia and neuropsychiatric symptoms. We report a 35-day-old asymptomatic patient with citrin deficiency who had abnormal biochemical findings.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.3 no.1
• /
• pp.45-50
• /
• 2003

• Proceedings of the Korean Society of Life Science Conference
• /
• 2001.06a
• /
• pp.53-66
• /
• 2001

본 실험실에서는 혈당강하효과를 갖는 chiroinositol을 다량 함유하고 있는 식품이나 식용물질을 탐색하여 선발하고, 선택된 식품이나 식용물질에서 chiroinositol을 lab-scale로 분리 정제하여 제조된 chiroinositol의 추출물로 동물실험을 실시하여 혈당강하효과를 증명하고 그 기작을 연구하고 있다. 약 300여종의 식품 및 식용물질을 GC-MS 및 HPLC로 분석한 결과 식품으로 안전한 탈지대두와 두부 순물에서 chiroinositol의 함량이 각각 6.45mg/g, 20mg/g으로 조사되어 선택되었고, chiroinositol의 순도가 40-60%(w/w)인 chiroinositol의 추출물을 이용하여 동물실험을 통한 혈당강하효과를 조사한 결과, 1) steptozotocin(STZ)으로 유발된 고혈당쥐에 경구투여시, 농도 의존적으로 혈당을 감소시키는 탁월한 기능을 나타내었고, 2) 정상쥐의 혈당제거율 검사(glucose tolerance test)에서강한 제거율 및 6시간의 지속시간을 나타내었으며, 3) STZ로 유발된 고혈당쥐의 혈당제거율 검사에서 강한 혈당강하 효과(약 40%)를 나타내었으며 지속시간은 약 12시간이었다. 4) 극심한 고혈당(450 내지 500mg/d)의 경우, 경미한 고혈당(300내지 350mg/d)의 경우보다 혈당 감소율이 20% 가량 높았으며, 지속시간도 1시간 이상 긴 것으로 나타났으며, 5) 인슐린과 복합처리 했을 때 상승작용(synergy)을 나타내었으며, 저혈당증으로 전혀 발전되지 않았다.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.17 no.2
• /
• pp.69-76
• /
• 2017

Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene on chromosome 7q21.3, and a type of urea cycle disorder that causes hyperammonemia. Although neonatal intrahepatic cholestasis and adult-onset type II citrullinemia, a type of citrin deficiency, have been described well in many articles for several decades, failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), the other type of citrin deficiency, has been only identified recently. There was previously no case report about FTTDCD in Korea. Patients with FTTDCD could present with loss of appetite, fatigue, failure to thrive, hypoglycemia, hypercitrullinemia, dyslipidemia, and an increased lactate/pyruvate ratio. Routine evaluation may not reveal the cause of hypoglycemia caused by citrin deficiency. We recently had a case that presented with recurrent hypoglycemia in a 30-month-old boy. Chemistry profiling, urine organic acid analysis, plasma acylcarnitine analysis, and hormone studies indicated values within the normal range or non-specific findings. Mutation analysis to identify the cause of hypoglycemia identified the subject as a compound heterozygote carrying each of the c.852_855del ($p.Met285Profs^*2$), and c.1177+1G>A mutant alleles. We report here on this unusual case of citrin deficiency presenting with FTTDCD for the first time in Korea.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.23 no.2
• /
• pp.8-14
• /
• 2023

The hepatic glycogen storage disease type 0 (GSD type 0) is an autosomal recessive disorder caused by a deficiency of hepatic glycogen synthase encoded by the glycogen synthase 2 (GYS2) gene, leading to abnormal synthesis glycogen. The clinical findings of GSD type 0 are hyperketotic hypoglycemia at fasting state and accompanying postprandial hyperglycemia and hyperlactatemia. GSD type 0 has only been reported in a very small number so far, and the diagnosis is likely to be missed because symptoms are mild, severe hypoglycemia is rare or asymptomatic, or symptoms gradually disappear with age. Essential management strategies include feeding high-protein meals to stimulate gluconeogenesis, frequent meals to prevent hypoglycemia during the day and feeding complex carbohydrates such as uncooked cornstarch to slowly release glucose during nignt. GSD type 0 has a good prognosis, with appropriate treatment, normal growth can be achieved and no complications occur. Significant hypoglycemia occurs less common in adulthood, but ongoing dietary management may be necessary.

• Clinical and Experimental Pediatrics
• /
• v.49 no.6
• /
• pp.665-671
• /
• 2006

Purpose : To study the effects of growth hormone(GH) treatment on glucose metabolism and insulin resistance in children with idiopathic short stature(ISS). Methods : Glucose and insulin concentrations were measured during oral glucose tolerance test (OGTT) before and after GH treatment(0.6-0.7 IU/kg/week) in 20 patients with ISS. Insulin resistance was assessed by homeostasis model assessment(HOMA). Results : During OGTT, the mean blood glucose level did not show any significant changes after GH treatment. However, mean blood insulin levels of fasting and 30 minutes of OGTT showed significant increases after GH treatment, accompanying significant increases of insulin resistance. There was no difference in change of glucose, insulin levels and insulin resistance before and after GH treatment between two groups of body mass indices(BMI) of 25< and >25. There also was no significant difference between two groups of with and without family histories of diabetes mellitus (DM). There was no case of newly developed impaired glucose tolerance, fasting glucose tolerance, nor newly developed DM. Conclusion : GH treatment with doses of 0.6-0.7 IU/kg/week for mean 9.6 months in patients with ISS did not show any significant changes in blood glucose levels during OGTT. However, GH treatments induced considerably higher fasting insulin levels compared to pretreatment, resulting in statistically higher insulin resistance. Higher BMI and family history of DM did not induce any significant changes in glucose, insulin level and insulin resistance after GH treatment than the other groups.

• Journal of Veterinary Clinics
• /
• v.30 no.5
• /
• pp.363-365
• /
• 2013

A 15-year-old, spayed female Maltese dog weighing 2.80 kg was referred with seizure of unknown origin. At presentation, serum biochemistry showed marked hypoglycemia (46 mg/dL; reference interval [RI], 65-118 mg/dL). There were, however, no abnormalities on electrolytes, complete blood counts, urinalysis, survey radiographs, and abdominal ultrasonography. In the adrenocorticotropic hormone (ACTH) stimulation test, pre-ACTH and post-ACTH cortisol concentrations were within normal reference ranges. Serum insulin level was normal and fructosamine level was slightly lower than reference ranges. The clinical signs, including seizure and collapse caused by hypoglycemia, were gradually resolved with oral administration of prednisolone (PDS) twice daily. Forty five weeks later, serum biochemistry revealed hypoglycemia with markedly increased insulin level. On abdominal ultrasonography, increased heterogenous echogenecity with hypoechoic lesion was found within pancreatic parenchyma. Based on these findings, the dog was presumptively diagnosed to insulinoma. Hypoglycemic seizure was resolved with higher dose of PDS (1 mg/kg, q12h). At 688 days after first presentation, the patient was still alive without recurrence of hypoglycemic seizure. This case describes long-term management with PDS monotherapy in a Maltese dog with insulinoma.

• Journal of Veterinary Clinics
• /
• v.32 no.4
• /
• pp.338-342
• /
• 2015

A 12-year-old castrated male miniature Schnauzer had anorexia, vomiting, lethargy, and fever for four days. The dog had leukocytosis, thrombocytopenia, hypoglycemia, hypoalbuminemia, hyperbilirubinemia, increased hepatic enzymes on hematologic and biochemical examinations. On abdominal ultrasonographs, there was an enlarged gallbladder with hyperechoic irregular wall thickening. Echocardiography showed vegetative change and regurgitation of aortic and mitral valves. E.coli was identified through ultrasound guided percutaneous cholecystocentesis and bile culture. Bacterial cholecystitis and concurrent endocarditis were diagnosed. The dog was recovered from sepsis with antibacterial and aggressive supportive therapy.

• Korean Journal of Psychosomatic Medicine
• /
• v.5 no.1
• /
• pp.118-122
• /
• 1997

We experienced a case of 51-year-old female patient who showed symptoms of persecutory delusion, auditory hallucination and hallucinatory behavior, severe insomnia, psychomotor retardation and social withdrawal, along with some clinical signs of the deficiency of various hormones those gradually progressed after massive postpartum vaginal bleeding 13 years ago. She was admitted to a psychiatric ward under the impression of psychotic depression. However careful history taking and evaluation of clinical feature gave rise to the possibility of underlying medical condition. Laboratory work-up revealed panhypopituitarism, hypoglycemia and hyponatremia. After replacement of thyroid hormone and cortisol for 1 week, her clinical symptoms including psychiatric symptoms were improved. Taken together, these findings were compatible with the diagnosis of Sheehan's syndrome. On reporting this case, we would like to emphasize again the importance of differential diagnosis of medical problems causing psychiatric symptoms those are easily neglected in the clinical approach toward psychiatric patients.

• Childhood Kidney Diseases
• /
• v.13 no.2
• /
• pp.261-266
• /
• 2009

Rhabdomyolysis, the clinical syndrome caused by the injury to skeletal muscle resulting in the release of muscle cell contents into the systemic circulation, has been described in association with various factors. The causes include crush injury, skeletal muscle overuse, heat, drug, abuse of alcohols and metabolic disorders as well as several types of viral and bacterial infections. We report two cases of rhabdomyolysis, which were complicated by uncommon causes, parainfluenza virus type I infection and hypernatremia.