• Journal of Genetic Medicine
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• v.4 no.2
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• pp.115-121
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• 2007

Hereditary motor and sensory neuropathy (HMSN; Charcot-Marie-Tooth disease, CMT) was first described by Charcot and Marie in France and, independently, by Tooth in England in 1886. HMSN is the most common form of inherited motor and sensory neuropathy, and is a genetically heterogeneous disorder of the peripheral nervous system. Using positional cloning methods, the chromosomal localization (locus) of more than 40 inherited peripheral neuropathies was found in the last 15 years. However, these genetic analyses also show that many entities do not show linkage to the known loci. This issue deals with a clinical survey of inherited peripheral neuropathies regarding diagnostic approaches based on the molecular findings.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.13 no.1
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• pp.54-56
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• 2013

Propionic acidemia is an inherited organic acid metabolic disorder. During chronic recurrent metabolic crisis, multiple blood transfusions can cause secondary hemochromatosis. We report a patient with propionic acidemia who had iron overload that resulted in liver dysfunction, cardiomyopathy and diabetes. When multiple blood transfusions are unavoidable, use of chelating agents for iron can prevent complications such as diabetes and hemochromatosis.

• Journal of Genetic Medicine
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• v.19 no.2
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• pp.94-99
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• 2022

Lesch-Nyhan disease (LND) is a rare X-linked recessive inherited purine metabolic disorder that accompanies neurodevelopmental problems. Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant inherited genetic disorder characterized by tumors in various systems. Some children with NF1 also accompanies neurodevelopmental problems. Here, we describe a 5-year-old boy with a maternally inherited pathogenic variant in NF1 and hypoxanthine-guanine phosphoribosyltransferase (HPRT). He was referred for severe neurodevelopmental impairment and hyperuricemia. His mother was diagnosed with NF1 and the patient was also suspected of having NF1 because of cafe au lait macules. He had dystonia, rigidity, cognitive deficit, and speech/language impairment. Serum and urine uric acid concentrations were elevated. He had more severe neurodevelopmental delay than patients with only NF1, so his clinical symptoms could not be fully understood by the disease alone. To find the cause of his neurologic symptoms and hyperuricemia, the patient and his mother underwent a whole-exome sequencing test. As a result, the pathogenic variant c.151C>T (p.Arg51Ter) in HPRT1 was identified as hemizygote in the patient and heterozygote in his mother. The pathogenic variant c.7682C>G (p.Ser2561Ter) in NF-1 was identified as heterozygotes in both of them. Although the clinical symptoms of both diseases were overlapping and complicated, genetic testing was helpful for accurate diagnosis and treatment. Therefore, we suggest to consider preemptive genetic evaluation if there are symptoms not sufficiently explained by known existing diseases. And it is considered valuable to review this rare case to understand the clinical course and possible synergic effects of these diseases.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.23 no.2
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• pp.1-7
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• 2023

Inherited metabolic disorders (IMD) are a group of disorders involving various metabolic pathways. Genetic diagnosis of IMD has been challenging because of extremely heterogeneous nature and extensive laboratory and/or phenotype overlap. Conventional genetic diagnosis was a gene-by-gene approach that needs a priori information on the causative genes that might underlie the IMD. Recent implementation of next-generation sequencing (NGS) technologies has changed the process of genetic diagnosis from a gene-by-gene approach to simultaneous analysis of targeted genes possibly associated with the IMD using gene panels or using whole exome/genome sequencing (WES/WGS) covering entire human genes. Clinical NGS tests can be a cost-effective approach for the rapid diagnosis of IMD with genetic heterogeneity and are becoming standard diagnostic procedures.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.2 no.1
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• pp.15-19
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• 2002

Disorders resulting from defects in peroxisomal biogenesis include Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease. The three diseases are now considered as a continuum of clinical features. Neonatal adrenoleukodystrophy is intermediate between Zellweger syndrome and infantile Refsum disease in severity, and is characterized by profound hypotonia, intractable seizures and premature death. We report a cases of neonatal adrenoleukodystrophy presenting with neonatal seizure and hypotonia. At the age of 43 months, she had clinical evidence of adrenal insufficiency with skin hyperpigmentation and electrolyte imbalance. She was diagnosed having neonatal adrenoleukodystrophy based on abnormally high levels of plasma very long-chain fatty acids, pipecolic acid and phytanic acid.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.5 no.1
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• pp.76-87
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• 2005

Various disorders cause hyperammonemia during childhood. Amongthem are those caused by inherited defects in urea synthesis and related metabolic pathways. These disorders can be grouped into two types: disorders of the enzymes that comprise the urea cycle, and disorders of the transporters or metabolites of theamino acids related to the urea cycle. Principal clinical features of these disorders are caused by elevated levels of blood ammonium. Additional disease-specific symptoms are related to the particular metabolic defect. These specific clinical manifestations are often due to an excess or lack of specific amino acids. Treatment of urea cycle disorders and related metabolic diseases consists of nutritional restriction of proteins, administration of specific amino acids, and use of alternative pathways for discarding excess nitrogen. Although combinations of these treatments are extensively employed, the prognosis of severe cases remains unsatisfactory. Liver transplantation is one alternative for which a better prognosis is reported.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.13 no.2
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• pp.126-130
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• 2013

Galactosemia is a metabolic disorder inherited by the recessive autosome, and appears by the deficiency of one enzyme out of GALT (Galactose-1-Phosphate Uridyltransferase), GALK (galactokinase), and GALE (epimerase) enzymes, among which the GALT deficiency disease is denominated as classical galactosemia and known to have symptoms such as severe nausea, jaundice, hepatomegaly, sucking difficulty and so on. We report the case of a 16-day-old female baby with the new p.A101D mutation together with p.N413d in the GALT gene analysis found in the neonatal screening test and diagnosed to have galactosemia by the GALT deficiency through the enzyme analysis. For the prognosis prediction, the treatment, the genetic counseling and the prenatal diagnosis of the patients, more detailed genetic diagnosis is required by performing GALT gene analysis, and it is deemed to be necessary to analyze the correlation between the phenotype and the genotype of the domestic galactosemia patients.

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

• Journal of The Korean Society of Inherited Metabolic disease
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• v.22 no.2
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• pp.53-57
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• 2022

Congenital metabolic disorders are rare inherited disorders resulting from a defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or impaired organelle function. Depending on the abnormality of biochemical metabolism, various precursors and their abnormal metabolites can accumulate in the body and the final products which are critical in normal physiology can be deficient, resulting in disease. Congenital metabolic disorders present complicated medical conditions involving several human organ systems, including nervous system, eyes, liver, and kidneys. Various proteins and lipids are involved in the development and homeostasis of the skin, so many congenital metabolic disorders present abnormal changes in skin and hair. In this review, congenital metabolic diseases related to amino acid and lipid metabolism accompanying skin abnormalities will be discussed.

• The Journal of the Korea Contents Association
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• v.8 no.10
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• pp.217-223
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• 2008

Adult polycystic liver disease (PLD) is a rare, benign condition association with autosomal dominant polycystic kidney disease (ADPKD). It is an autosomal dominantly inherited disorder characterized by multiple diffuse cystic lesions of the liver parenchyma. Significant symptoms or complications from liver involvement can occur cases. Surgical therapy is the mainstay of therapy including laparoscopic or open fenestration with or without hepatic resection and orthotopic liver transplantation. We report the literature addressing the presence of abdominal discomport, a case of a patient with PLD. This case showed the typical ultrasonogaphic and computer tomogaphic findings of this disease.