• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.2
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• pp.62-69
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• 2016

Newborn screening of some urea cycle disorders has little benefits because of early severe symptoms before the result, low sensitivity (especially hypocitrullinemia) and poor prognosis. But in case of citrullinemia, citrin deficiency and argininosuccinic aciduria diagnosed as elevated citrulline, newborn screening is helpful for early diagnosis and treatment before the symptom. Distinction between the clinical forms of these diseases is based on clinical findings and biochemical results, however, they may not be clearcut. Treatment is different from each other, so exact diagnosis is essential. Here, the diagnostic algorithm for elevated citrulline after tandem mass screening has been proposed. Minimizing total process time from sampling to report of the results is important in Korea for diagnosis and treatment of these disorders.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.2 no.1
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• pp.1-6
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• 2002

출생 이후 머리둘레가 커지는 1개월 남아에게서 뇌초음파상 지주막하 공간이 확장되어 있고 백질의 음영이 증가되어 있었고 뇌 MRI 소견은 sylvian fissure의 확장과 양측 대뇌, 소뇌 피질과 백질이 T1 강조 영상에서 저신호강도와 T2 강조영상에서 고신호강도를 보였고 검사상 GA1 의심되었고 경피생검으로 얻은 섬유아세포 배양에서 glutaryl CoA dehydrogenase의 활성도가 전혀 없어 GA1을 확진하게 되었다. 이후 특수분유인 Glutatex(Abbott사) 수유와 riboflavin, carnitine 보충요법을 시행하여 대사성 위기나 급성 뇌증 위기는 없었고 양호히 발달하는 것을 경험하였기에 보고하는 바이다.

• Journal of the Korean Society of Laryngology, Phoniatrics and Logopedics
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• v.32 no.3
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• pp.142-145
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• 2021

Paradoxical vocal fold movement (PVFM) is a dystonic laryngeal disorder characterized by involuntary vocal fold adduction during inspiration and/or expiration. PVFM is uncommon and may aggravate airway obstruction. And patients with PVFM have a specific etiology; therefore, treatment must be individualized and given immediately. We present a case of 63-year-old male presenting with intermittent dyspnea. After multidisciplinary workup, we presumed psychogenic PVFM and evaluated with speech-language pathologist and psychologist. In this report, we describe a rare case of psychogenic PVFM patient.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.1
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• pp.1-9
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• 2016

Newborn screening (NBS) is important if early intervention is effective in a disorder and if there are sensitive and specific biochemical markers to detect disorder. Methionine is a useful marker to detect abnormal methionine-homocysteine metabolism, especially homocystinuria which needs urgent medical intervention. However, hypermethioninemia could occur in other metabolic disorder including liver disease, tyrosinemia type I, methionine adenosyltransferase (MAT) I/III deficiency, glycine N-methyltransferase (GNMT) deficiency, or adenosylhomocysteine hydrolase deficiency. However, experience with NBS for homocystinurias and methylation disorders is limited. Especially, MAT I/III deficiency which is the most common cause of persistent hypermethioninemia have two inheritance, autosomal recessive (AR) and autosomal dominant (AD), and their clinical manifestation is different between AR and AD. Here, author reviewed recent articles of guideline and proposed guideline for homocystinuria and methylation disorder.

• Proceedings of the KSLP Conference
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• 1996.11a
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• pp.87-87
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• 1996

객관적인 검사도구인 Dr. Speech Science(DSS)의 음성평가 결과가 갖는 의미를 알아보고자 이 연구를 하였다. 성대결절환자 여자 성인 25명을 대상으로 DSS를 이용한 음성평가와 청각심리적 검사방법인 GRBAS와의 관계를 비교 분석하였다. 청각심리적 검사인 GRBAS의 0, 1, 2, 3의 각 Grade에 따라 DSS의 음성평가의 결과와 비교하였다. DSS의 음성평가 결과로서 Grade가 0, 1, 2인 경우 총 15례중 1례를 제외한 모든 경우에 있어서 hoarseness, harshness, breathiness항목에서 정상소견을 나타냈으며 Grade가 3인 경우에는 총 10례 중 6례에서 hoarseness, harshness, breathiness항목에서 정상소견을 나머지 4례에서는 hoarseness에서 slight한 정도를 보여주었다.

• Proceedings of the KOR-BRONCHOESO Conference
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• 1981.05a
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• pp.9.1-10
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• 1981

The clinical study of 183 cases of laryngeal mass was observed and 88 cases of vocal nodule and polyp which is confirmed histopathologically, were clinically classified into 30 cases of vocal nodule, 48 cases of localized vocal polyp, 10 cases of diffuse vocal polyp, and the following results of microscopic examination were obtained. I. The clinical study of laryngeal mass 1. Among total cases of 183, vocal nodule is 82(45%) vocal polyp 53(29%) postintubation granuloma 3(1%) laryngeal papilloma 18(10%) tuberculosis 2(1%) cancer 25(14%). 2. The sex ratio of male to female is 3:4 in vocal nodule, 1:1 in vocal polyp, 1:2 in postintubation granuloma, 3:2 in laryngeal papilloma, 11:1 in cancer. 3. The age distribution is third-fourth decade in vocal nodule, fourth-fifth decade in vocal polyp, third decade in postintubation granuloma, second and fifth decade in laryngeal tuberculosis, sixth decade in laryngeal cancer. 4. The distribution of symptoms is 5 month. -1 year in vocal nodule and polyp, less than 1 year in laryngeal papilloma and postintubation granuloma, 1 year-3 year in laryngeal tuberculosis and cancer. 5. The location of the lesion is between the anterior 1/3 and middle 1/3 in vocal nodule and polyp and papilloma, middle 1/3 and posterior 1/3 in postintubation granuloma, and is diffusely spread on the entire vocal cord in laryngeal tuberculosis and cancer. 6. The side of the lesion is bilateral in vocal nodule and papilloma and the ratio of right to left is 5:3 in vocal polyp, 2:1 in postintubation granuloma. 7. The size is 1~2mm(67%) in vocal nodule, 3~5mm(42%) in vocal polyp, 6~10mm (67%) in postintubation granuloma, 1~2mm (39%) in papilloma, more than 10mm in tuberculosis and cancer. 8. Among the symptoms, the hoarseness is in more than 90% of disease entity, the sore-throat in tuberculosis and cancer, the dyspnea in postintubation granuloma and papilloma and tuberculosis and cancer. 9. In the past history, certain relationship with smoking is noted in cancer (40%) and tuberculosis(50%) and the history of frequent attack of URI is in papilloma(33%). 10. In occupation, certain statistical significance was not noted. II. The histopathological study of vocal nodule and polyp. 1. Most polyps and nodules were covered with stratified squamous epithelium, but focal hyperkeratosis, parakeratosis, acanthosis and atrophy were rather frequently observed. Hyperkeratosis and acanthosis was most frequently seen.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.1
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• pp.24-28
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• 2020

Type III Glycogen storage disease (Type III GSD, OMIM#232400) is a genetic metabolic disorder in which undigested glycogen accumulates in the organs due to lack of glycogen debranching enzyme caused by AGL mutation. The clinical symptoms of type III GSD include hepatomegaly, delayed growth, hypoglycemia and muscle weakness. These clinical symptoms are similar to those of other types of GSD, making it difficult to distinguish clinically. The authors report a case of type III GSD diagnosed by gene panel sequencing. A 11-month old male patient was presented with hepatomegaly. In liver biopsy, glycogen was accumulated in hepatocytes, suggesting GSDs. For differential diagnosis of types of GSD, gene panel sequencing for GSDs was performed. As a result, two novel pathogenic compound heterozygous variants: c.311_312del (p.His104Argfs*15) and c.3314+1G>A in AGL were detected and the patient was diagnosed as type III GSD. After diagnosis, he started dietary treatment with cornstarch, and has been free from complications. After two years, two same variants were also identified in the chorionic villous sampling of the pregnant mother, and the fetus was diagnosed as type III GSD. Gene panel sequencing is useful for diagnosis of disease which is indistinguishable by clinically and has high genetic heterogeneity, such as GSD. After diagnosis, familial genetic analysis can provide adequate genetic counseling and rapid diagnosis.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.2
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• pp.186-190
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• 2014

Citrullinemia type 2 (citrin deficiency) is an autosomal recessive inborn error metabolism, caused by the SLC25A13 gene mutation. Citrin deficiency is associated with two clinical phenotype; neonatal-onset type II citrullinemia (CTLN2), also known as neonatal intraphepatic cholestasis caused by citrin deficiency (NICCD) and adult-onset CTLN2. Clinical manifestations of NICCD include poor growth, intrahepatic cholestasis, liver dysfunction and increased plasma citrulline, methionine, threonine, arginine. The molecular diagnosis could be confirmed by SLC25A13 gene mutation analysis. A 3-month-old male infant with persistent jaundice was referred for evaluation. Newborn screening was normal at birth. Mild elevation of serum ammonia and AST/ALT were observed. Plasma amino acid analysis showed significantly elevated citrulline, methionine, threonine. DNA sequence analysis of the SLC25A13 gene revealed two compound heterozygous mutations, c.[852_855del]($p.Met285Profs^*2$) and [1180+1G>A]. We suggest that NICCD should be considered as one of the cause of in infants with cholestatic jaundice, although the newborn screening was normal.

• Proceedings of the KOR-BRONCHOESO Conference
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• 1982.05a
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• pp.11.2-12
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• 1982

The major advancement in phonosurgery due to recent development of laryngomicrosurgery enabled more accurate diagnosis and treatment of patient with voice disorders. Among large proportion of voice disordered patients, prominent linear furrow running parallel along the free edge of vocal cord extending from the vocal process to anterior commissure can be seen as well as incomplete closure during phonation. These cases were illustrated and coined as sulcus vocalis by Salvi in 1901, since then other similar paper was reported in Europe and Japan, but has not been reported in Korea. The exact etiology and therapeutic methods of sulcus vocalis has not been elaborated. At Department of Otolaryngology of Yonsei University College of Medicine a series of voice analysis were performed among those 35 patients with sulcus vocalis visited to Vocal Dynamics Laboratory from May, 1981 to March, 1982. Following is the result of clinical statistical investgation and therapeutic modality. 1) The incidance of sulcus vocalis among 290 patients with voice disorder visited to Vocal Dynamics Laboratory was approximately 12%(35 cases). 2) Onset of this voice disorder was most frequent among patient under 10 year-old groups; 19 cases (54%) followed by second decade, third decade groups in decreasing frequency respectably. 3) The etiology of sulcus vocalis was mostly unknown. The sequelae after measle (4 cases) and severe upper respiratory infection (3 cases) and congenital deformity (2 cases) were the possible causes of sulcus vocalis. 4) These patients were involved bilaterally in 25 cases (71%), left side only in 8 cases (23%) and right side only in 2 cases (6%). 5) Almost all patients complained hoarseness and 7 patients were suffering from chronic laryngitis. 6) In aerodynamic analysis, Maximal Phonation Time was decreased in 20 cases (57%), Phonation Quotient was increased in 22 cases (63%) and Mean Air Flow Rate was increased in 23 cases (66%). 7) Among them, 33 cases were analyzed with stroboscopy. The findings were as follows; incomplete glottic closure during phonation in 31 cases (93%), regular vocal cord movement in whole cases, asymmetric cord movement in 4 cases (12%), decreased amplitude in 5 cases (21%) and small mucosal wave in 24 cases (73%). 8) Intracordal Teflon injection in 5 cases and Sulcusectomy in 1 cases were performed as therapeutic management, however, the therapeutic results were not effective except one case with Teflon injection.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.2
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• pp.123-134
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• 2014

Recent advances in the diagnosis and treatment of inborn errors of metabolism (IEM) have improved substantially the prognosis of many of these diseases, if diagnosed early enough before irreversible damage occurs. Diseases of inborn errors of metabolism are so diverse over several hundred disease up to now and may be several thousand in near future, and these diversities of IEMs make clinicians embarassed. The signs of neurological dysfunctions of many IEMs manifesting in the neonatal period is very nonspecific, such as poor feeding, poor sucking, apnea or tachypnea, vomiting, hypertonia, hypotonia, seizure, letharginess, consciousness change and coma. But after neonatal period, the signs of neurological deficits become specific and localized. The results of routine basal laboratory tests such as metabolic acidosis, hyperammonemia, lactic acidemia, ketonemia or hyperuricemia can give very important clinical clues for the diagnosis of IEMs. Even no abnormal findings on routine laboratory test could be very important clue for NKH, sulfite oxidase deficiency and peroxisomal disorders. These various clinical manifestations of these diverse diseases can be categorized and summarized. This makes it essential that the practicing clinicians be familiar with the clinical presentations and symptomatic and systematic approaches of these disorders. Characteristic clinical presentations, methods of symptomatic and systematic approach and typing of various disorders is discussed in this review.