• Journal of the Korean Society of Food Culture
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• v.37 no.4
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• pp.363-375
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• 2022

Galactosemia is a rare, hereditary metabolic disorder caused by the accumulation of galactose and its metabolites in the body due to a lack of enzymes that convert galactose to glucose. This study aimed to investigate the dietary behaviors and nutritional statuses of patients with galactosemia and to provide basic information on the development of nutrition education programs to improve quality of dietary life. A survey was conducted on 13 parents of (<11 years of age) children with galactosemia and 26 parents of (<11 years of age) children without galactosemia. Mean body mass index was greater for school-age children with galactosemia (18.77 kg/m²) than for corresponding normal children (16.55 kg/m²). Underweight and obesity rates of children with galactosemia were greater than those of children without galactosemia. In addition, children with galactosemia had a higher food neophobia rate and thus consumed less food. Normal children exhibited a greater range of food preferences than those with galactosemia, especially for milk and dairy products (p= .001) and fats and sweets (p= .04). Reliable food databases and appropriate dietary recommendations are required to ensure the proper growth of children with galactosemia.

• Clinical Nutrition Research
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• v.12 no.3
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• pp.169-176
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• 2023

Glucose transporter type 1 (GLUT1) deficiency syndrome (DS) is a metabolic brain disorder caused by a deficiency resulting from SLC2A1 gene mutation and is characterized by abnormal brain metabolism and associated metabolic encephalopathy. Reduced glucose supply to the brain leads to brain damage, resulting in delayed neurodevelopment in infancy and symptoms such as eye abnormalities, microcephaly, ataxia, and rigidity. Treatment options for GLUT1 DS include ketogenic diet (KD), pharmacotherapy, and rehabilitation therapy. Of these, KD is an essential and the most important treatment method as it promotes brain neurodevelopment by generating ketone bodies to produce energy. This case is a focused study on intensive KD nutritional intervention for an infant diagnosed with GLUT1 DS at Gangnam Severance Hospital from May 2022 to January 2023. During the initial hospitalization, nutritional intervention was performed to address poor intake via the use of concentrated formula and an attempt was made to introduce complementary feeding. After the second hospitalization and diagnosis of GLUT1 DS, positive effects on the infant's growth and development, nutritional status, and seizure control were achieved with minimal side effects by implementing KD nutritional intervention and adjusting the type and dosage of anticonvulsant medications. In conclusion, for patients with GLUT1 DS, it is important to implement a KD with an appropriate ratio of ketogenic to nonketogenic components to supply adequate energy. Furthermore, individualized and intensive nutritional management is necessary to improve growth, development, and nutritional status.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.23 no.2
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• pp.8-14
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• 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 Nutrition Research
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• v.13 no.1
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• pp.22-32
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• 2024

Rheumatoid arthritis (RA) is a systemic inflammatory autoimmune disorder with widespread synovitis. Isoflavones, the main active component of soy, have been reported to have potent anti-inflammatory effects; the previous RA animal models showed the promising effect of soy supplementation. We aimed to evaluate the effect of soy bread on inflammatory markers and lipid profiles in RA patients. The present study was designed as a randomized controlled trial. RA patients were randomly allocated to obtain soy bread (n = 22) or placebo bread (n = 22) for 8 weeks. Fasting serum levels of lipid profile, total antioxidant capacity (TAC), tumor necrosis factor-α (TNF-α), C-reactive protein (CRP), and DAS28 were checked. Findings showed that there were no significant differences between the two groups in physical activity and dietary intake at the beginning of the study and the end of the study. There were no significant differences between the two groups in measured lipid profile markers, including high-density lipoprotein, low-density lipoprotein, total cholesterol, triglyceride, and very low-density lipoprotein, at the end of the trial. In addition, TAC and CRP also were not significant at the end of the trial between the 2 groups (0.66 and 0.12, respectively). However, the serum levels of TNF-α reduced significantly in the soy bread group at the end of the intervention (p < 0.000) and compared with the control group (p < 0.019). Soy bread consumption only decreased circulating TNF-α serum concentration. Other outcome measures were not changed following supplementation. Future long-term, well-designed studies are needed to confirm these findings.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.19 no.1
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• pp.20-25
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• 2019

Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (OMIM#201475) is an autosomal recessively inherited metabolic disorder of mitochondrial long-chain fatty acid oxidation. The clinical features of VLCAD deficiency is classified by three clinical forms according to the severity. Here, we report a case of later-onset episodic myopathic form of VLCAD deficiency whose diagnosis was confirmed by plasma acylcarnitine analysis and" multigene panel multigene panel sequencing. A 34-year old female patient visited genetics clinic for genetic evaluation for history of recurrent myopathy with intermittent rhabdomyolysis. She suffered first episode of rhabdomyolysis with acute renal failure requiring hemodialysis at twelve years old. After then, she suffered several times of recurrent rhabdomyolysis provoked by prolonged exercise or fasting. Physical and neurologic exam was normal. Serum AST/ALT and creatinine kinase (CK) levels were mildly elevated. However, according to her previous medical records, her AST/ALT, CK were highly elevated when she had rhabdomyolysis. In suspicion of fatty acid oxidation disorder, multigene panel sequencing and plasma acylcarnitine analysis were performed in non-fasting, asymptomatic condition for the differential diagnosis. Plasma acylcarnitine analysis revealed elevated levels of C14:1 ($1.453{\mu}mol/L$; reference, 0.044-0.285), and C14:2 ($0.323{\mu}mol/L$; 0.032-0.301) and upper normal level of C14 ($0.841{\mu}mol/L$; 0.065 -0.920). Two heterozygous mutation in ACADVL were detected by multigene panel sequencing and confirmed by Sanger sequencing: c.[1202G>A(;) 1349G>A] (p.[(Ser 401Asn)(;)(Arg450His)]). Diagnosis of VLCAD deficiency was confirmed and frequent meal with low-fat diet was educated for preventing acute metabolic derangement. Fatty acid oxidation disorders have diagnostic challenges due to their intermittent clinical and laboratorial presentations, especially in milder late-onset forms. We suggest that multigene panel sequencing could be a useful diagnostic tool for the genetically and clinically heterogeneous fatty acid oxidation disorders.

• Journal of Korean Medicine Rehabilitation
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• v.18 no.1
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• pp.33-46
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• 2008

Objectives : Obesity is a metabolic disease resulted from various causes including nutritional disproportion, hormonal imbalance, and hypothalamic nuclei disorder. Samhwang-tang(Sanhuang-tang, SHT) is composed of 5 herbs (Ephedrae Herba, Scutellariae Radix, Typhae pollen, Acori Rhizoma and Ansu Semen) and is frequently used for obese patients. This study investigated anti-obesity effects of SHT on the rats. Methods : Obesity was induced by high fat diet (HFD), monosodium L-glutamate injection (MSG) and ovariectomy (OVX) in the Sprague-Dawley rats. Water extract of SHT was treated for 2 weeks, then changes of body weight gain and epididymal fat cell size were measured. In OVX animals, c-Fos and neuropeptide Y (NPY) expressions in hypothalamic nuclei were observed with immunohistochemistry. Results : SHT treatment demonstrated significant decrease of body weight gain in obesity induced by HFD and OVX, but not in obesity induced by MSG. SHT treatment demonstrated significant decrease of fat cell size in obesity induced by HFD, but not in obesity induced by MSG. On c-Fos and NPY expressions in hypothalamic nuclei, SHT treatment resulted significant decrease of immuno-reactivity of c-Fos and NPY in obesity induced by OVX. Conclusions : These results suggest that SHT has a weight loss effect against obesity induced by nutritional disproportion of diet intake and hormonal imbalance, especially without central nervous system disorder.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.3 no.1
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• pp.75-83
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• 2000

Cyclic vomiting syndrome(CVS) is a disorder of unknown etiology that is characterized by its clinical pattern of intermittent episodes of severe vomiting, similar in time of onset and duration, with no symptoms during the intervening period. By definition, CVS is an idiopathic disorder that requires exclusionary laboratory testing. Not only can it be mimicked by many specific disorders, eg, surgical, neurologic, endocrine, metabolic, renal, but within idiopathic CVS there may be specific subgroups that have different mechanisms. It has been reported that CVS usually begins in toddlers and resolves during adolescence. Migraine is also self-limiting episodic condition of children and the clinical features of migraine and CVS show considerable similarity. It is proposed that CVS is a condition related to migraine. This paper reports clinical courses of long term follow-up and reversible EEG changes in three patients whose history included CVS. Clinical situations of attack interval, duration and associated symptoms had changed variablely in each patients through long term follow-up period. Cyclic vomiting subsided in two cases. Abnormal delta activity was seen during episodes and resolved at follow-up, when the patient asymptomatic. The brain wave changes support the interpretation of CVS as a migraine variant.

• Clinical and Experimental Pediatrics
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• v.53 no.4
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• pp.598-602
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• 2010

Transient hyperammonemia in a newborn is an overwhelming disease manifested by hyperammonemic coma. The majority of affected newborns are premature and have mild respiratory syndrome. The diagnosis may be difficult to determine. This metabolic disorder is primarily characterized by severe hyperammonemia in the postnatal period, coma, absence of abnormal organic aciduria and normal activity of the enzymes of the urea cycle. Hyperammonemic coma may develop within 2-3 days of life, although its etiology is unknown. Laboratory studies reveal marked hyperammonemia (>$4,000{\mu}mol/L$). The degree of neurologic impairment and developmental delay in this disorder depends on the duration of hyperammonemic coma. Moreover, the infant may succumb to the disease if treatment is not started immediately and continued vigorously. Hyperammonemic coma as a medical emergency requires dialysis therapy. Here, we report a case of severe transient hyperammonemia in a preterm infant (35 week of gestation) presented with respiratory distress, seizure, and deep coma within 48 hours and required ventilatory assistance and marked elevated plasma ammonia levels. He survived with aggressive therapy including peritoneal dialysis, and was followed 2 years later without sequelae.

• Genomics & Informatics
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• v.20 no.3
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• pp.30.1-30.9
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• 2022

Hereditary spastic paraplegia is a not common inherited neurological disorder with heterogeneous clinical expressions. ALDH18A1 (located on 10q24.1) gene-related spastic paraplegias (SPG9A and SPG9B) are rare metabolic disorders caused by dominant and recessive mutations that have been found recently. Autosomal recessive hereditary spastic paraplegia is a common and clinical type of familial spastic paraplegia linked to the SPG11 locus (locates on 15q21.1). There are different symptoms of spastic paraplegia, such as muscle atrophy, moderate mental retardation, short stature, balance problem, and lower limb weakness. Our first proband involves a 45 years old man and our second proband involves a 20 years old woman both are affected by spastic paraplegia disease. Genomic DNA was extracted from the peripheral blood of the patients, their parents, and their siblings using a filter-based methodology and quantified and used for molecular analysis and sequencing. Sequencing libraries were generated using Agilent SureSelect Human All ExonV7 kit, and the qualified libraries are fed into NovaSeq 6000 Illumina sequencers. Sanger sequencing was performed by an ABI prism 3730 sequencer. Here, for the first time, we report two cases, the first one which contains likely pathogenic NM_002860: c.475C>T: p.R159X mutation of the ALDH18A1 and the second one has likely pathogenic NM_001160227.2: c.5454dupA: p.Glu1819Argfs Ter11 mutation of the SPG11 gene and also was identified by the whole-exome sequencing and confirmed by Sanger sequencing. Our aim with this study was to confirm that these two novel variants are direct causes of spastic paraplegia.

• 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.