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Case Report
Genetics and Metabolism
Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk
Kyung Lae Cho, Yeo Jin Kim, Song Hyun Yang, Gu-Hwan Kim, Jun Hwa Lee
Clin Exp Pediatr. 2016;59(Suppl 1):S41-S44.   Published online November 30, 2016

We report here a case of maternal 3-methylcrotonyl-coenzyme A carboxylase (3-MCC) deficiency in a Korean woman. Her 2 infants had elevated 3-hydroxyisovalerylcarnitine (C5-OH) on a neonatal screening test by liquid chromatography-tandem mass spectrometry (LC-MS/MS), but normal results were found on urine organic acid analysis. The patient was subjected to serial testing and we confirmed a maternal 3-MCC deficiency by blood...

Long-term clinical course of a patient with mucopolysaccharidosis type IIIB
Ja Hye Kim, Yang Hyun Chi, Gu-Hwan Kim, Han-Wook Yoo, Jun Hwa Lee
Clin Exp Pediatr. 2016;59(Suppl 1):S37-S40.   Published online November 30, 2016

Mucopolysaccharidosis type III (MPS III) is a rare genetic disorder caused by lysosomal storage of heparan sulfate. MPS IIIB results from a deficiency in the enzyme alpha-N-acetyl-D-glucosaminidase (NAGLU). Affected patients begin showing behavioral changes, progressive profound mental retardation, and severe disability from the age of 2 to 6 years. We report a patient with MPS IIIB with a long-term follow-up...

Endocrinology
Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms
Yoon-Myung Kim, In-Hee Choi, Jun Suk Kim, Ja Hye Kim, Ja Hyang Cho, Beom Hee Lee, Gu-Hwan Kim, Jin-Ho Choi, Eul-Ju Seo, Han-Wook Yoo
Clin Exp Pediatr. 2016;59(Suppl 1):S25-S28.   Published online November 30, 2016

Phelan-McDermid syndrome is a rare genetic disorder caused by the terminal or interstitial deletion of the chromosome 22q13.3. Patients with this syndrome usually have global developmental delay, hypotonia, and speech delays. Several putative genes such as the SHANK3, RAB, RABL2B, and IB2 are responsible for the neurological features. This study describes the clinical features and outcomes of Korean patients with...

Original Article
Genetics and Metabolism
Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay
Go Hun Seo, Ja Hye Kim, Ja Hyang Cho, Gu-Hwan Kim, Eul-Ju Seo, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo
Clin Exp Pediatr. 2016;59(1):16-23.   Published online January 22, 2016
Purpose

The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molecular characteristics of five Korean patients with the...

Case Report
Successful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel KCNJ11 mutation
Sung Yeon Ahn, Gu-Hwan Kim, Han-Wook Yoo
Clin Exp Pediatr. 2015;58(8):309-312.   Published online August 21, 2015

Permanent neonatal diabetes mellitus refers to diabetes that occurs before the age of 6 months and persists through life. It is a rare disorder affecting one in 0.2-0.5 million live births. Mutations in the gene KCNJ11, encoding the subunit Kir6.2, and ABCC8, encoding SUR1 of the ATP-sensitive potassium (KATP) channel, are the most common causes of permanent neonatal diabetes mellitus....

Original Article
Lowe syndrome: a single center's experience in Korea
Hyun-Kyung Kim, Ja Hye Kim, Yoo-Mi Kim, Gu-Hwan Kim, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo
Clin Exp Pediatr. 2014;57(3):140-148.   Published online March 31, 2014
Purpose

Lowe syndrome is a rare, X-linked recessive disorder caused by mutations in the OCRL gene. It involves multiple anatomic systems, particularly the eyes, central nervous system, and kidneys, and leads to profound growth failure and global developmental delay. This study evaluated the clinical and genetic characteristics of Korean patients with Lowe syndrome.

Methods

The clinical findings and results of genetic studies were...

Case Report
Chronic intermittent form of isovaleric aciduria in a 2-year-old boy
Jin Min Cho, Beom Hee Lee, Gu-Hwan Kim, Yoo-Mi Kim, Jin-Ho Choi, Han-Wook Yoo
Clin Exp Pediatr. 2013;56(8):351-354.   Published online August 27, 2013

Isovaleric aciduria (IVA) is caused by an autosomal recessive deficiency of isovaleryl-CoA dehydrogenase (IVD). IVA presents either in the neonatal period as an acute episode of fulminant metabolic acidosis, which may lead to coma or death, or later as a "chronic intermittent form" that is associated with developmental delays, with or without recurrent acidotic episodes during periods of stress, such...

Two cases of chronic pancreatitis associated with anomalous pancreaticobiliary ductal union and SPINK1 mutation
Eun Sam Rho, Earl Kim, Hong Koh, Han-Wook Yoo, Beom Hee Lee, Gu-Hwan Kim
Clin Exp Pediatr. 2013;56(5):227-230.   Published online May 28, 2013

Chronic pancreatitis is a progressive inflammatory disease resulting from repeated episodes of acute pancreatitis that impair exocrine function and eventually produce endocrine insufficiency. Some causes of chronic pancreatitis appear to be associated with alterations in the serine-protease inhibitor, Kazal type 1 (SPINK1), cationic trypsinogen (PRSS1), and cystic fibrosis-transmembrane conductance regulator (CFTR) genes, or with structural disorders in the pancreaticobiliary ductal...

X-linked recessive myotubular myopathy with MTM1 mutations
Young-Mi Han, Kyoung-Ah Kwon, Yun-Jin Lee, Sang-Ook Nam, Kyung-Hee Park, Shin-Yun Byun, Gu-Hwan Kim, Han-Wook Yoo
Clin Exp Pediatr. 2013;56(3):139-142.   Published online March 18, 2013

X-linked recessive myotubular myopathy (XLMTM) is a severe congenital muscle disorder caused by mutations in the MTM1 gene and characterized by severe hypotonia and generalized muscle weakness in affected males. It is generally a fatal disorder during the neonatal period and early infancy. The diagnosis is based on typical histopathological findings on muscle biopsy, combined with suggestive clinical features. We...

Original Article
Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups
Ju-Young Lee, Beom Hee Lee, Gu-Hwan Kim, Chang-Woo Jung, Jin Lee, Jin-Ho Choi, Han-Wook Yoo
Clin Exp Pediatr. 2012;55(2):48-53.   Published online February 14, 2012
Purpose

Gaucher disease is caused by a β-glucocerebrosidase (GBA) deficiency. The aim of this study is to investigate the clinical and genetic characteristics according to subtypes of Gaucher disease in the Korean population.

Methods

Clinical findings at diagnosis, GBA mutations, and clinical courses were reviewed in 20 patients diagnosed with Gaucher disease.

Results

Eleven patients were diagnosed with non-neuronopathic type, 2 with acute neuronopathic type,...

Case Report
Transient neonatal diabetes mellitus with macroglossia diagnosed by methylation specific PCR (MS-PCR)
Hye Young Jin, Jin-Ho Choi, Gu-Hwan Kim, Han-Wook Yoo
Clin Exp Pediatr. 2010;53(3):432-436.   Published online March 15, 2010
Transient neonatal diabetes mellitus (TNDM) has been associated with paternal uniparental isodisomy of chromosome 6, paternally inherited duplication of 6q24, or a methylation defect at a CpG island of the ZAC or HYMAI gene. We experienced a case of TNDM in which the patient presented with hyperglycemia, macroglossia, and intrauterine growth retardation, caused by a paternally derived HYMAI. An 18-day-old...
A case of Smith-Lemli-Opitz syndrome diagnosed by identification of mutations in the 7-dehydrocholesterol reductase (DHCR7) gene
Mee Rim Park, Jung Min Ko, Chong-Keun Cheon, Gu-Hwan Kim, Han-Wook Yoo
Clin Exp Pediatr. 2008;51(11):1236-1240.   Published online November 15, 2008
Smith-Lemli-Opitz syndrome (SLOS) is a rare, autosomal recessive disease caused by an inborn error in cholesterol synthesis. Patients with this disease suffer from multiple malformations due to reduced activity of 7-dehydrocholesterol reductase (DHCR7), which increases 7-dehydrocholesterol (7DHC) and 8-dehydrocholesterol (8DHC) concentrations and decreases cholesterol concentration in body fluids and tissue. The SLOS phenotypic spectrum ranges from a mild disorder with...
A Case of Lesch-Nyhan Syndrome
Joon-Sung Kim, Jae-Seung Lee, Ha-Young Noh, Byung-Ju Kim, Young-Jong Woo, Jee-Min Park, Myung-Gwan Kim, Gu-Hwan Kim, Han-Wook Yoo
Clin Exp Pediatr. 2003;46(5):505-509.   Published online May 15, 2003
Lesch-Nyhan syndrome is an X-linked recessive disorder characterized by hyperuricemia, choreoathetosis, spasticity, mental retardation, and compulsive, self-injurious behavior. This disorder results from a complete deficiency of the purine salvage enzyme, hypoxanthine-guanine phosphoribosyl transferase(HPRT). We report here on a case of Lesch-Nyhan syndrome in a 1-year, 7-month-old male who presented with frequent vomiting, failure to thrive, and developmental delay. The diagnostic...
Original Article
Identification of Novel Mutations and Three Most Common Mutations in the Human ATP7B Gene of Korean Patients with Wilson Disease
Han-Wook Yoo, Gu-Hwan Kim, Ji-Won Chung, Chang-Yeon Lee, Kyung-Mo Kim
Clin Exp Pediatr. 2001;44(5):569-576.   Published online May 15, 2001
Purpose : Wilson disease is an autosomal recessive disorder of copper transport, which is probably the most common inherited metabolic disorder in Korea. It is characterized by defective biliary excretion of copper and impairment in the corporation of copper into ceruloplasmin. In Wilson disease, synthesis of a defective copper transporting enzyme leads to the accumulation of copper in the liver, brain and kidney. The...
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