• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.12 no.1
• /
• pp.54-57
• /
• 2012

A 3-year-old boy was transferred to emergency room (ER) with lethargy and abdominal pain. Physical examination revealed drowsy mental status but neurologically intact. Basic evaluation in ER shows hypoglycemia (43 mg/dL), hyperglycerolemia, ketonemia and ketonuria. Initial urine organic acid was performed and the result showed severe hyperglyceroluria. Under suspicion of isolated GKD, GKD gene was obtained from his DNA from white blood cell in peripheral blood and sequencing was performed. Isolated glycerol kinase deficiency (GKD) is an X-linked inborn error of metabolism that is either symptomatic or asymptomatic. GKD is due to deletions of, or mutations within, the GK gene, and there is no genotype-phenotype correlation. Gene study that we performed showed normal at a well-known mutation site, but found 4-base insertion at 79 base pair away from the beginning of exon 11.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.2 no.1
• /
• pp.89-94
• /
• 2002

Purpose : This study was performed to determine the safety and efficacy of recently developed specific formulas for phenylketonuria(PKU) patient by observing the growth and developmental pattern and serum phenylalanine level. Methods : We observed 14 patients diagnosed with PKU at Soon Chung Hyang University Hospital fed with formula for 1 year by checking daily diet diary and plasma aminoacids, Hb, Hct, WBC, Platelet count, ferritin, GOT, GPT, protein, albumin, globulin and urinalysis. Results : The 14 patients all liked the formula and height, weight and head circumference showed normal growth. Hemoglobin levels were in normal range, but 4 out of the 14 patients showed ferritin level lower than 12 ng/mL and needed iron supplements. Serum albumin, liver enzyme levels, urinalysis showed within normal range. The plasma phenyalanine levels were normal ranged 0.7-15.6 mg/dL. Adverse reactions such as rash, diarrhea or constipation were not observed. Conclusion : We confirmed that the specific formulas for PKU patients developed in Korea, PKU-1 and PKU-2 showed favorable results In development and treatment of PKU patients and could be used safely to children.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.12 no.2
• /
• pp.99-103
• /
• 2012

Tyrosinemia type I is an autosomal recessive inborn error of tyrosine metabolism that caused a mutation. Clinical symptoms include progressive liver damage with liver failure, coagulopathy, hypophosphataemic rickets, renal tubular dysfunction and a high risk of hepatocellular carcinoma. If left untreated, the affected infants may die from liver failure within the first year of life. PharmacoloIcal therapy with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) has offered an effective therapeutic option in addition to dietary restriction of tyrosine and phenylalanine. As prognosis of tyrosinemia type I is improving with early diagnosis and early treatments, it meets the criteria for a condition that would benefit from newborn screening. We report a case of tyrosinemia type I diagnosed by newborn screening and successive biochemical analysis of plasma and urine, treated by dietary restriction and NTBC.

• Proceedings of the KOR-BRONCHOESO Conference
• /
• 1978.06a
• /
• pp.6.4-7
• /
• 1978

The author has experienced 50 cases of vocal nodules and polyps in our department for 3 years from May 1974 to April 1977. These nodules were removed out with laryngeal forcep under indirect laryngoscopy and maximum phonation time and timbre of the voice were analyzed before and after operation. Very shortened phonation time of the patient with vocal nodule has returned to normal range (Male : 30 seconds, Female: 20 seconds) and the voice timbre has recovered to almost normal voice postoperatively. The author has made a brief literature review.

• Tuberculosis and Respiratory Diseases
• /
• v.51 no.3
• /
• pp.270-274
• /
• 2001

A functional upper airway obstruction due to a vocal cord dysfunction(VCD) is characterized by a paradoxical adduction of the vocal cords throughout the respiratory cycle with no obvious organic cause for the obstruction. It commonly occurs paroxysmally and imitates acute asthmatic attacks, often in patients with coexisting asthma. They present with episodes of dyspnea associated with inspiratory wheezing that persists despite conventional asthma treatment and a flattening of the inspiratory limb of the flow-volume curve ; an adduction of the vocal cord during inspiration. Failure to recognize concurrent vocal cord dysfunction and asthma has led not only to the excessive use of bronchodilators and corticosteroids, but also to intubation and tracheostomy. Here, we report a case of coexistent obstructive pulmonary disease and functional upper airway obstruction due to a vocal cord dysfunction where a bronchoscopy showed a paradoxical vocal cord motion and typical features of a variable extrathoracic obstruction and a lower airway obstruction on the Flow-volume loop during a symptomatic period.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.6 no.1
• /
• pp.32-39
• /
• 2006

Galactosialidosis is a lysosomal storage disease associated with a combined deficiency of ${\beta}$-galactosidase and ${\alpha}$-neuraminidase, secondary to a defect of another lysosomal protective protein. It is a neurodegenerative disorder clinically characterized by psychomotor deterioration, cerebellar ataxia, coarse facies, generalized bony deformity and organomegaly. Three phenotypic subtype are recognized: early infantile, late infantile and juvenile/adult type. We report a 13 months old boy with a late infantile galactosialidosis. He was presented with progressive mental regression and motor disturbance and observed cherry red spot, hearing loss, moderate dysostosis multiplex and vacuolated lymphocytes in peripheral blood. He showed only ${\beta}$-galactosidase deficiency in the lymphocytes and was initially diagnosed as $GM_1$-gangliosidosis type 1. However, further studies revealed the possible defect of ${\alpha}$-neuraminidase suggesting that he was a case of galactosialidosis which was mimicking $GM_1$-gangliosidosis type 1.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.19 no.1
• /
• pp.26-30
• /
• 2019

PCDH19-related epilepsy is an inherited disease occurring in female patients and characterized by early onset seizure, intellectual disability, and behavioral disturbances. It is caused by de novo or familial heterozygous variation of the PCDH19 gene located on Xq22.1. Our patient was hospitalized for multiple focal seizures. The magnetic resonance imaging was normal and electroencephalogram showed focal epileptiform discharges. The child's development did not progress; she began to manifest, cognitive, behavioral and language delays. Because of that, we performed an epilepsy gene panel test. We report a case of epilepsy with mental retardation limited to female patients with mutation of PCDH19.

• Proceedings of the KOR-BRONCHOESO Conference
• /
• 1993.05a
• /
• pp.89-89
• /
• 1993

The laryngeal epithelial cell kinetics of 26 laryngeal lesions(invasive squamous cell carcinoma 14, epithelial hyperplasia 5, laryngeal nodule 7) were studied by immunehistochemical analysis with the monoclonal antibody Ki-67, which reacts with nuclear antigen in proliferating cells using paraffin embedded tissue. For DNA analysis, touch implint with fresh biopsy specimens were stained with feulgen and analyzed by image analyzer in 22 cases. 1) The proportion of Ki-67-positive cells were 32.65$\pm$ 11.59% in invasive squamous cell ca, 20.14$\pm$3.38% in epithelial hyperplasia lesion and 11.66$\pm$3.02% in laryngeal nodule. 2) DNA aneuploidy was found in 7 cases of 10(70%) invasive squamous cell carcinomas, 2 cases of 5(40%) epithelial hyperplasia lesions and all cases of laryngeal 3) Proliferation index(S phase+G2/M phase) show 23.42$\pm$11.33% in squamous cell carcinoma, 13.09$\pm$ 10.90% in epithelial hyperplasia lesion and 4.50$\pm$1.19% in laryngeal nodule. As the results, measuring the DNA content from touch imprint method together positivity of Ki-67 antibody from the microtissue during the laryngeal microscopic surgery, cell kinetics can be assessed as an effort of deciding the prognosis and provide a key to the management of precancerous lesions.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.16 no.2
• /
• pp.70-78
• /
• 2016

21-hydroxylase deficiency (21-OHD), most common form of congenial adrenal hyperplasia, is categorized into classical forms, including the salt-wasting (SW) and the simple virilizing (SV) types, and nonclassical (NC) forms based on the severity of the disease. Newborn screening for 21-OHD has been performed in Korea since 2006. $17{\alpha}$-hydroxyprogesterone (17-OHP) is a marker for 21-OHD and is measured using a radioimmunoassay or a fluoroimmunoassay. Premature and low birth weight infants are likely to give false positive 17-OHP findings, therefore, cutoff values for these infants should be determined based on gestational weeks or birth weight. ACTH simulation test is helpful when the 17-OHP shows equivocal increase, and it is gold standard for diagnosis of NC type. Recently, liquid chromatography linked with tandem mass spectrometry was developed for rapid, highly specific, and sensitive analysis of multiple analytes. Molecular analysis of CYP21A2 is useful for confirming diagnosis of mild SV or NC type, predicting prognoses, and genetic counseling. In order to make newborn screening for 21-OHD more efficient, early detection of boy with SW type, early determination of girl with ambiguous genitalia, detection of NC type, and overcoming of false positive in premature and low birth weight infants should be considered. Above all, early treatment should be started when the patient is suspected as having 21- OHD clinically before confirming the diagnosis to prevent adrenal crisis. Here, author reviewed recent articles of guideline and proposed guideline for 21-OHD.

• Journal of the Korean Society of Laryngology, Phoniatrics and Logopedics
• /
• v.24 no.1
• /
• pp.28-32
• /
• 2013

Because the human voice is produced through vibration of the vocal cords during the exhalation of airflow, it is important to observe the vibration pattern of the vocal cords in patients complaining of voice changes. However, it is not easy to observe the actual vibration pattern of the vocal cord because it vibrates so fast that it cannot be observed by the naked eye and it is located deep in the throat. Recently, with advances in instruments, including laryngoscopes and video camera systems, the vibration pattern of the vocal cords can now be observed. However, considering that present video camera systems can detect 30-60 images per second and the vocal cord vibrates at 100-200 and 200-300 times per second in men and women, respectively, it is not possible to record the whole mucosal wave of the vocal cord in real time. To overcome this limitation, a stroboscope, which converts fast movements of the vocal cord into slower images, has been developed. Since then, several instruments were developed to examine vocal vibration pattern. However, each instruments have advantages and disadvantages. Therefore, we should know about these things to apply them in patients with voice problem.