• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.22 no.2
• /
• pp.37-45
• /
• 2022

Inherited metabolic disorders (IMD) are a large group of rare disorders affecting normal biochemical pathways. The ophthalmic involvement can be very varied affecting any part of the eye, including abnormalities of cornea, lens dislocation and cataracts, retina and the optic nerve, and extraocular muscles. Eye disorders can be initial symptoms of some IMD and can be clue for diagnosis of IMD. However, eye disorders can evolve later in the natural history of an already diagnosed metabolic disorder. Awareness of IMDs is important to facilitate early diagnosis and in some cases instigate early treatment if a patient presents with eye involvement suggestive of a metabolic disorder. Ophthalmological interventions are also an important component of the multisystem holistic approach to treating patients with metabolic disorders.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.1 no.1
• /
• pp.64-71
• /
• 2001

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.17 no.3
• /
• pp.77-84
• /
• 2017

Purpose: From the early 1990's, use of Tandem mass spectrometry in neonatal screening test, made early stage detection of disorders that was not detectable by the previous methods of inspection. This research aims to evaluate the frequency of positive results in national neonatal screening test by Tandem mass spectrometry and its usefulness. Methods: A designated organization for inherited metabolic disorder executed neonatal screening test on newborns using Tandem mass spectrometry from January 2006 to December 2015, followed by the investigation of these data by the Planned Population Federation of Korea (PPFK), and this research analyzed those inspected data from the PPFK. Results: Among total childbirth of 4,590,606, from January 2006 to December 2015, 3,445,238 were selected for MS/MS and conduction rate was 75.1%. 261 out of the selected 3,445,238 were confirmed patients and for last decade, detection rate of total metabolic disorder was 1/13,205. In 261 confirmed patients, 120 had an amino acid metabolic disorder and its detection rate was 1/28,710 and 110 had an organic acid metabolic disorder and detection rate was 1/31,320. Also, 31 had a fatty acid metabolic disorder and detection rate was 1/13,205. Conclusion: Inherited metabolic disorder is very rare. Until now, it was difficult to precisely grasp an understanding on the national incidence of inherited metabolic disorder, due to lack of overall data and inconsistent and incomplete long-term result analysis. However, this research attempted to comprehensively approach the domestic incidence, by analyzing previous 10 years of data.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.1 no.1
• /
• pp.48-53
• /
• 2001

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.13 no.2
• /
• pp.75-80
• /
• 2013

Specific genetic conditions may lead to sudden unexpected deaths in infancy, such as inborn errors of fatty acid oxidation and genetic disorders of cardiac ion channels. The disease may present dramatically with severe hypoketotic hypoglycemia, Reye syndrome or sudden death, typically with a peak of frequency around 3-6 month, whilst neonatal sudden death is quite rare. When undetected, approximately 20-25% of infants will die or suffer permanent neurologic impairment as a consequence of the first acute metabolic decompensation. Meanwhile, the advent of newborn screening for metabolic diseases has revealed populations of patients with disorders of fatty acid oxidation (FAO), the most frequent of which is medium chain acyl-CoA dehydrogenase (MCAD) deficiency. Without this screening, affected individuals would likely succumb to sudden infant death syndrome (SIDS). Here we describe an overview of sudden infant death syndrome and inherited metabolic disorder.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.10 no.1
• /
• pp.37-39
• /
• 2010

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.6 no.1
• /
• pp.6-14
• /
• 2006

Propionic acidemia is an autosomal recessive metabolic disorder caused by a defect of propionyl CoA carboxylase with resultant accumulation of toxic organic acid metabolites. This disorder is biochemically characterized by metabolic acidosis, ketoacidosis, hyperglycinemia and hyperammonemia. Clinical symptoms are very heterogeneous and present as a severe neonatal-onset or a late-onet form. We describe one case of propionic acidemia in a 4-year-old boy who has developed gait disturbance after acute metabolic decompensation.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.5 no.1
• /
• pp.94-107
• /
• 2005

Prenatal diagnosis (PND) such as amniocentesis or chorionic villi sampling has been widely used in order to prevent the birth of babies with defects especially in families with single gene disorderor chromosomal abnormalities. Preimplantation genetic diagnosis (PGD) has already become an alternative to traditional PND. Indications for PGD have expanded beyond those practices in PND (chromosomal abnormalities, single gene defects), such as late-onset diseases with genetic predisposition, and HLA typing for stem cell transplantation to affected sibling. After in vitro fertilization, the biopsied blastomere from the embryo is analyzed for single gene defect or chromosomal abnormality. The unaffected embryos are selected for transfer to the uterine cavity. Therefore, PGD has an advantage over PND as it can avoid the risk of pregnancy termination. In this review, PGD will be introduced and application of PGD in inborn error metabolic disorder will be discussed.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.23 no.1
• /
• pp.12-16
• /
• 2023

Patients with inborn metabolic disorder (IMD) show multisystemic manifestations. Heterogenous renal manifestations can develop in IMD patients as well. In this review, the major renal manifestations of IMD and their representative IMDs are described. The major renal manifestations include Fanconi syndrome, renal tubular acidosis, nephrolithiasis, renal cysts and glomerulopathy, and diverse types of IMDs such as carbohydrate metabolism disorders, lysosomal disorders, organic acidemias, mitochondrial disorders, purine and pyrimidine disorders present renal manifestations. Therefore, general and regular renal function evaluation is recommended in addition to specific investigation according to IMD phenotypes.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.22 no.1
• /
• pp.9-14
• /
• 2022

Glutaric aciduria type 1 (GA1; OMIM #231670) is a rare autosomal recessive inherited neurometabolic disorder caused by the deficiency of glutaryl-CoA dehydrogenase. Infantile-onset GA1 is the most common form characterized by striatal injury and progressive movement disorder, and it is often triggered by an acute encephalopathic crisis within the first three years of life. Once this crisis occurs, there is a high likelihood for ineffective or limited conventional interventions, neurological disorders, or even death. Therefore, early diagnosis and immediate preventive management, such as dietary therapy, is essential. In the past decades, newborn screening (NBS) by tandem mass spectrometry for GA1 has been largely introduced in many countries including Korea, and it has led to improvements in the neurological outcomes of patients with GA1. In this review, the clinical symptoms, natural histories, and outcomes before and after the introduction of NBS in patients are discussed.