1.Sphingolipidoses.
Hanyang Medical Reviews 2005;25(3):19-26
Sphingolipidoses are a subgroup of lysosomal storage disorders. They are characterized by relentless progressive storage in affected organs and concomitant functional impairments. No overall screening procedure for these disorders is available. Their course and appearance, however, are usually characteristic and, together with relevant technical procedures such as magnetic resonance imaging (MRI), clinical neurophysiology, ophthalmologic examination, etc., a provisional diagnosis can be made, after which enzymatic diagnosis can close the gap in the diagnostic process. Subgroups of sphingolipidoses are grouped together, such as disorders with prominent hepatosplenomegaly (Niemann-Pick A, B and Gaucher disease) and disorders with central and peripheral demyelination (metachromic leukodystrophy and Krabbe disease). Farber disease and Fabry disease are unique in themselves. The last decade has seen hopeful progress in therapeutic strategies, especially for Gaucher disease. Therefore, emphasis of this review has been placed on these new developments.
Demyelinating Diseases
;
Diagnosis
;
Fabry Disease
;
Farber Lipogranulomatosis
;
Gangliosidoses, GM2
;
Gangliosidosis, GM1
;
Gaucher Disease
;
Hope
;
Leukodystrophy, Globoid Cell
;
Magnetic Resonance Imaging
;
Mass Screening
;
Neurophysiology
;
Niemann-Pick Diseases
;
Sphingolipidoses*
2.Inborn Errors of Metabolism in Korea.
Journal of the Korean Neurological Association 2004;22(1):1-10
Diseases of inborn errors of metabolism (IEMs) are very rare but the overall prevalence of IEMs is not low, and in the United States, about 5~10% of admitted patients have some genetic predispositions. Clinical manifestations of IEMs are very diverse, but most frequent manifestations are neurological symptoms and signs. IEMs in Korea have been underestimated because of prejudice, underdevelopment of diagnostic tools and ignorance. The Korean Pediatric Society has done a retrospective study in order to know the relative incidence of IEMs in 2001. All hospitals with over 100 beds participated in the study. The most frequent disease was Wilson disease (201 cases for 10 years) followed by phenylketonuria (98 cases for 10 years) and Hunters disease (69 cases for 10 years). Disorders of mineral metabolism were the most frequently diagnosed disease groups (252 cases for 10 years) followed by organic acidopathies (220 cases), aminoacidopathies (139 cases), mucopolysaccharidosis (131 cases), disorders of carbohydrate metabolism (84 cases), sphingolipidosis (69 cases), urea cycle disorders (39 cases), peroxisomal disorders (27 cases), porphyrias (16 cases), disorders of purine and pyrimidine metabolism (14 cases), disorders of membrane transport (13 cases), fatty acid oxidation disorders (9 cases), oligosaccharidosis (2 cases), and mucolipidosis (1 case). Clearly, Koreans are not protected from IEMs and a systematic approach is needed to make diagnosis more easy and accurate.
Brain Diseases, Metabolic, Inborn
;
Carbohydrate Metabolism
;
Diagnosis
;
Genetic Predisposition to Disease
;
Hepatolenticular Degeneration
;
Humans
;
Incidence
;
Korea*
;
Membranes
;
Metabolism
;
Metabolism, Inborn Errors*
;
Mucolipidoses
;
Mucopolysaccharidoses
;
Peroxisomal Disorders
;
Phenylketonurias
;
Porphyrias
;
Prejudice
;
Prevalence
;
Retrospective Studies
;
Sphingolipidoses
;
United States
;
Urea Cycle Disorders, Inborn
3.A Case of Type A Niemann-Pick Disease.
Eun Young JEON ; Kyung Ah CHOI ; Chul Hoe KOO ; Wha Mo LEE ; Young Suk JEON ; Chang Hun LEE ; Kang Suek SUH ; Sun Kyeung LEE
Journal of the Korean Pediatric Society 1998;41(2):275-280
Niemann-Pick disease is a storage disease characterized by accumulation of sphingomyelin and other lipids, mainly in the reticuloendothelial system. We experienced a case of type A Niemann-Pick disease in a 18-month-old male infant. He showed dyspnea, marked hepatosplenomegaly and developmental retardation. Fundoscopic examination revealed cherry red spots in both macula. Bone marrow aspirates showed characteristic foam cells. Autopsy finding revealed that liver, spleen, lung, lymph node and brain were involved. Reticular infiltration was shown on chest X-ray. We reported a case of type A Niemann-Pick disease with a brief review of the related literature.
Autopsy
;
Bone Marrow
;
Brain
;
Dyspnea
;
Foam Cells
;
Humans
;
Infant
;
Liver
;
Lung
;
Lymph Nodes
;
Male
;
Mononuclear Phagocyte System
;
Niemann-Pick Disease, Type A*
;
Niemann-Pick Diseases
;
Prunus
;
Spleen
;
Thorax
4.An Anesthetic Experience in a Patient with Tay-Sachs Disease : A case report.
Seong su KIM ; Suk ju CHO ; Hwa sung JUNG
Korean Journal of Anesthesiology 2007;52(1):107-110
Tay-Sachs Disease (TSD), the most common form of GM(2) gangliosidosis, is an autosomal recessive inborn lysosomal glycosphingolipid storage disease which is resulted from the mutations that affect the alpha-subunit locus on chromosome 15 and cause a severe deficiency of hexosaminidase A. It is characterized by normal motor development in the first few months of life, followed by progressive weakness and loss of motor skills beginning around 6 months of life. Neurodegeneration is relentless and manifested as relentless motor and mental deterioration, beginning with motor incoordination, mental obtundation leading to muscular flaccidity, blindness, and increasing dementia, with death occurring by the age of 4 or 5 years. We report a successful anesthetic management in a patient with Tay-Sachs Diseases for tracheostomy and feeding gastrostomy.
Ataxia
;
Blindness
;
Chromosomes, Human, Pair 15
;
Dementia
;
Gangliosidoses
;
Gastrostomy
;
Hexosaminidase A
;
Hexosaminidases
;
Humans
;
Motor Skills
;
Muscle Hypotonia
;
Tay-Sachs Disease*
;
Tracheostomy
5.Three Chinese children with Niemann-Pick disease type C with neonatal cholestasis as initial presentation.
Rui YANG ; Dongqiong TAN ; Yu WANG ; Jun YE ; Lianshu HAN ; Wenjuan QIU ; Xuefan GU ; Huiwen ZHANG
Chinese Journal of Pediatrics 2015;53(1):57-61
OBJECTIVETo analyze the clinical characteristics of three Chinese cases of Niemann-Pick disease type C patients with neonatal cholestasis as initial presentation, and enhance awareness of Niemann-Pick disease type C among pediatricians.
METHODThree sporadic cases with confirmed Niemann-Pick disease type C initially presented as neonatal cholestasis were retrospectively reviewed in this study. Their peripheral blood specimens were collected after obtaining informed consent. All exons and the intron-exon boundaries of NPC1 gene were examined by bi-directional sequencing.
RESULTThree patients, 1 female and 2 males, aged from 2 months to 5 years and 10 months, all first complained of jaundice in the neonatal period. Laboratory tests showed total bilirubin and direct bilirubin significantly increased with predominant increase of direct bilirubin. Total bile acid, aspartate aminotransferase (AST), and alanine aminotransferase (ALT) were also increased, while high-density lipoprotein cholesterol decreased. All patients were also accompanied by hepatosplenomegaly, with two of them having increased bronchovascular markings in chest X-ray. Two heterozygous changes of NPC1 gene, c.2741G>T +c.3020C>G (p. C914F + p. P1007R), c.2177G>C + c.3734_ 3735delCT (p.R726T + p. P1245RfsX12), and c.2054T>C + c.2128C>T(p.I685T + p.Q710X), were identified in patient 1, 2 and 3, respectively.
CONCLUSIONWe reported three cases suffered from Niemann-Pick disease type C with initial presentation as neonatal cholestasis in the mainland of China. For newborns with prolonged jaundice in the neonatal period, as well as neonatal cholestasis, hepatosplenomegaly, Niemann-Pick type C should be included in consideration of differential diagnosis. Genetic testing can identify causative mutations for diagnosis.
Asian Continental Ancestry Group ; Bile Acids and Salts ; Bilirubin ; Child ; Child, Preschool ; China ; Cholestasis ; etiology ; Exons ; Female ; Humans ; Infant ; Infant, Newborn ; Infant, Newborn, Diseases ; Lipoproteins, HDL ; Male ; Mutation ; Niemann-Pick Disease, Type C ; complications ; diagnosis ; genetics ; pathology ; Niemann-Pick Diseases ; Retrospective Studies ; Splenomegaly
6.Newborn screening of inherited metabolic disease in Korea.
Korean Journal of Pediatrics 2006;49(11):1125-1139
In 1991, the Ministry of Health & Social affairs adopted a nationwide service program for neonatal screening of phenylketonuria, galactosemia, maple syrup urine disease, homocystinuria, histidinemia & congenital hypothyroidism for newborns delivered from low class pregnant women registered in health centers. Government decreased the test items from six to two, PKU & congenital hypothyroidism to increase test numbers with same budget from 1995. Government decided to test PKU & hypothyroidism for all newborns from 1997. 78 laboratories wanted to participate for neonatal screening test in 1999. Government didn't decide laboratory center for a certain district and placed responsibility on free competition. Government are planning to test 573,000 newborns from 1998, Government decided to screen 6 items PKU, congenital hypothyroidism, maple syrup urine disese, homocystinuria, galactosemia and congenital adrenal hyperplasia from 2006. 17 laboratores are participating now. The cost of screening test is supported by both the federal government and local government on a 40-60 basis. In case a patient with an inherited metabolic disease is diagnosed by screening of government program, special milk is provided at government's expense. Interlaboratory quality control was started 6 times a year from 1994. According to the government project, 3,707,773 newborns were screened. 86 PKU, 718 congenital hypothyroidism were detected. So incidence of PKU is 1/43,114 and congenital hypothyroidism is 1/4,612. Maeil dairy company produced new special formula for PKU, MMA and PA, MSUD, urea cycle disorder, homocystinuria, isovaleric acidemia from Oct. 1999. The cost benefit of performing screening procedures coupled with treatment has been estimated to be as high as 1.77 times in PKU, 11.11 times in congenital hypothyroidism than cost without screening. We are trying to increase the budget to test all newborns for Tandem mass sereening & Wilson disease from 2008. Now it is a very important problem to decrease laboratory numbers of neonatal screening in Korea. So we are considering 4-5 central laboratories which cover all newborns and are equipped with tandem mass spectrometer & enzyme immunoassay for TSH, 17OHP & enzyme colorimetric assay for galactose.
Acer
;
Adrenal Hyperplasia, Congenital
;
Budgets
;
Congenital Hypothyroidism
;
Cost-Benefit Analysis
;
Federal Government
;
Female
;
Galactose
;
Galactosemias
;
Government Programs
;
Hepatolenticular Degeneration
;
Homocystinuria
;
Humans
;
Hypothyroidism
;
Immunoenzyme Techniques
;
Incidence
;
Infant, Newborn*
;
Korea*
;
Local Government
;
Maple Syrup Urine Disease
;
Mass Screening*
;
Metabolic Diseases*
;
Milk
;
Neonatal Screening
;
Phenylketonurias
;
Pregnant Women
;
Quality Control
;
Urea Cycle Disorders, Inborn
7.Menkes disease mimicking non-accidental injury in a Filipino child
Dion-Berboso April Grace ; Madrid Bernadette J. ; Melendres Cerissa T. ; Chiong Mary Anne D.
Acta Medica Philippina 2011;45(4):73-75
We report an 11-month-old male who presented with recurrent seizures, subdural bleed, skull fracture, lightly pigmented hair, and fair lax skin. Copper and ceruloplasmin levels were low and gross deletion of ATP7A gene was found confirming the diagnosis of Menkes disease. The presence of subdural bleed and skull fracture prompted a referral to the Child Protection Unit to rule out child abuse.
Human
;
Male
;
Female
;
Adult
;
Infant
;
MENKES KINKY HAIR SYNDROME
;
NERVOUS SYSTEM DISEASES
;
CENTRAL NERVOUS SYSTEM DISEASES
;
BRAIN DISEASES
;
BRAIN DISEASES, METABOLIC
;
BRAIN DISEASES, METABOLIC, INBORN
;
CERULOPLASMIN
;
COPPER
8.A Case of Niemann Pick Disease.
Sung Hwan KIM ; Young Joo CHOI ; In Ho KIM ; Sang Woo KIM
Journal of the Korean Pediatric Society 1983;26(10):1039-1043
No abstract available.
Niemann-Pick Diseases*
9.A novel frameshift mutation of HEXA gene in the first family with classical infantile Tay-Sachs disease in Thailand
Boonchai Boonyawat ; Tim Phetthong ; Charcrin Nabangchang ; Piradee Suwanpakdee
Neurology Asia 2016;21(3):281-285
Tay-Sachs disease (TSD) is an autosomal recessive neurodegenerative disorder caused by mutations in
the HEXA gene resulting in a deficiency of β-hexosaminidase A (HEX A) enzyme. To our knowledge,
TSD has never been reported in Thai population. We describe the first case of classic infantile TSD in
a 2-year-old Thai boy who presented with first episode of seizure and neuroregression since 9 months
of age. Hyperacusis, progressive macrocephaly and macular cherry red spots were also detected during
examination. Brain MRI revealed hyperintensity in the basal ganglion on T1-weighted and partial
corpus callosum agenesis. Measurement of β-hexosaminidase activity in the patient leukocytes showed
low total β-hexosaminidase (62.6 normal 801+/-190 nmol/mg protein/hr) and low %HEX A (7.57
normal 55-72%HEX A) activity compatible with TSD. Mutation analysis of the HEXA gene revealed
compound heterozygous of a novel frameshift mutation (c.1207delG or p.E403SfsX20) in exon 11
which was inherited from the mother and a previously described missense mutation (c.1510C>T or
p.R504C) in exon 13 which was inherited from the father, respectively.
Conclusion. We report a clinical, biochemical and molecular analysis in the first case of genetically
confirmed classic infantile TSD in Thailand.
Tay-Sachs Disease
10.A Case of Type A Niemann Pick Disease.
Hyo Nam CHO ; Hong Jin LEE ; Jae Won SONG ; Jung Hwan CHOI ; Hyung Ro MOON ; Je Geun JI ; Myeong Hee PARK
Journal of the Korean Pediatric Society 1987;30(12):1461-1467
No abstract available.
Niemann-Pick Disease, Type A*