WordNet

(baseball) a failure of a defensive player to make an out when normal play would have sufficed (同)misplay
departure from what is ethically acceptable (同)wrongdoing
(computer science) the occurrence of an incorrect result produced by a computer (同)computer error
a misconception resulting from incorrect information (同)erroneous belief
part of a statement that is not correct; "the book was full of errors" (同)mistake
street name for lysergic acid diethylamide (同)back breaker, battery-acid, dose, dot, Elvis, loony toons, Lucy in the sky with diamonds, pane, superman, window pane, Zen
any of various water-soluble compounds having a sour taste and capable of turning litmus red and reacting with a base to form a salt
having the characteristics of an acid; "an acid reaction"
to make a mistake or be incorrect (同)mistake, slip
the organic processes (in a cell or organism) that are necessary for life (同)metabolic_process

PrepTutorEJDIC

《所有・所属》…『の』,…のものである,…に属する・《材料・要素》…『でできた』,から成る・《部分》…『の』[『中の』] ・《数量・単位・種類を表す名詞に付いて》…の・《原因・動機》…『で』,のために(because of) ・《主格関係》…『の』,による,によって・《目的格関係》…『を』,の・《同格関係》…『という』・《関係・関連》…『についての』[『の』],の点で・《抽象名詞などと共に》…の[性質をもつ] ・《『It is』+『形』+『of』+『名』+『to』 doの形で,ofの後の名詞を意味上の主語として》・《分離》…『から』・《起原・出所》…『から』[『の』](out of) ・《『名』+『of』+『a』(『an』)+『名』の形で》…のような・《『名』+『of』+『mine』(『yours, his』など独立所有格)の形で》…の…・《時》(1)《副詞句を作って》…に《形容詞句を作って》…の・《時刻》《米》…前(to,《米》before)
〈C〉『誤り』,『まちがい』 / 〈U〉思い違い,誤解 / 〈U〉〈C〉過ち,過失 / 〈U〉(計数の)誤差 / 〈C〉(野球で)エラー,失策
酸性の / 酸味のある,すっぱい(sour) / (言葉・態度などが)厳しい,しんらつな / 酸 / すっぱいもの / 《俗》=LSD
(判断・考え方・選択などで)『誤る』,まちがえる;過ちを犯す,罪を犯す《+『in』+『名』(do『ing』)》 / (正道・目的などから)それる,逸脱する《+『from』+『名』》
新陳代謝,物質交代

UpToDate Contents

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1. 先天性代謝異常：分類 inborn errors of metabolism classification
2. 先天性代謝異常：代謝性救急疾患 inborn errors of metabolism metabolic emergencies
3. 先天性代謝異常：疫学、病因、および臨床的特徴 inborn errors of metabolism epidemiology pathogenesis and clinical features
4. 先天性代謝異常：個々の障害の発見 inborn errors of metabolism identifying the specific disorder
5. 具合の悪そうな乳児（生後90日未満）へのアプローチ approach to the ill appearing infant younger than 90 days of age

English Journal

Cardiomyopathy and hypotonia in a 5-month-old infant with malonyl-coa decarboxylase deficiency: potential for preclinical diagnosis with expanded newborn screening.

Ficicioglu C, Chrisant MR, Payan I, Chace DH.Author information Section of Metabolism, Children's Hospital of Philadelphia, 34th & Civic Center Boulevard, Philadelphia, PA 19104-4399, USA. FICICIOGLU@.Email.CHOP.EduAbstractMalonyl-CoA decarboxylase deficiency is an inborn error of metabolism that may cause hypotonia and a fatal cardiomyopathy in infancy. Newborn metabolic screening programs do not include this disorder, although there is a possibility that presymptomatic treatment may attenuate the development of cardiomyopathy. We report a case of malonyl-CoA decarboxylase deficiency in a 5-month-old boy who presented with cardiomyopathy and hypotonia. Retrospective analysis of the newborn screening test showed an elevation in the concentration of malonylcarnitine at age 3 days. Unfortunately, this perturbation was missed because the screening test did not routinely measure malonylcarnitine in the newborn blood. Our experience confirms the possibility of screening for malonyl-CoA decarboxylase deficiency with tandem mass spectrometry. This finding should enable studies to determine if presymptomatic treatment could change the outcome in this often fatal disorder.
Pediatric cardiology.Pediatr Cardiol.2005 Nov-Dec;26(6):881-3.
Malonyl-CoA decarboxylase deficiency is an inborn error of metabolism that may cause hypotonia and a fatal cardiomyopathy in infancy. Newborn metabolic screening programs do not include this disorder, although there is a possibility that presymptomatic treatment may attenuate the development of card
PMID 16078122

Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline.

Baumgartner MR, Rabier D, Nassogne MC, Dufier JL, Padovani JP, Kamoun P, Valle D, Saudubray JM.Author information Division of Metabolism and Molecular Paediatrics, University Children's Hospital, Zurich, Switzerland.AbstractDelta1-pyrroline-5-carboxylate synthase (P5CS) catalyses the reduction of glutamate to Delta1-pyrroline-5-carboxylate, a critical step in the biosynthesis of proline, ornithine and arginine. Recently, we reported a newly recognised inborn error due to deficiency of P5CS in two sibs, one presenting at birth with hypotonia, dysmorphic signs, pes planus and clonic seizures. Both developed progressive neurodegeneration and peripheral neuropathy, joint laxity, skin hyperelasticity and bilateral subcapsular cataracts. Their metabolic phenotype includes mild hyperammonaemia, hypo-ornithinaemia, hypocitrullinaemia, hypo-argininaemia and hypoprolinaemia. Incorporation of 3H-proline into protein was deficient in fibroblasts incubated with 3H-glutamate. Both patients are homozygous for the missense mutation R84Q in P5CS. Here, we describe the clinical phenotype of the sibs in detail and show that a relative deficiency of urea cycle intermediates (ornithine, citrulline and arginine) during fasting periods results in a paradoxical hyperammonaemia. Furthermore, we show the results of ornithine loading tests and indirect enzyme studies corroborating the biological significance of the defect in P5CS in vivo.
European journal of pediatrics.Eur J Pediatr.2005 Jan;164(1):31-6. Epub 2004 Oct 28.
Delta1-pyrroline-5-carboxylate synthase (P5CS) catalyses the reduction of glutamate to Delta1-pyrroline-5-carboxylate, a critical step in the biosynthesis of proline, ornithine and arginine. Recently, we reported a newly recognised inborn error due to deficiency of P5CS in two sibs, one presenting a
PMID 15517380

Novel mutations in the GALK1 gene in patients with galactokinase deficiency.

Hunter M, Angelicheva D, Levy HL, Pueschel SM, Kalaydjieva L.Author information Centre for Human Genetics, Edith Cowan University, Perth, Western Australia.AbstractGalactokinase deficiency is an inborn error of galactose metabolism whose major clinical manifestation is the development of cataracts during the first months of life. Only 20 mutations have been reported to date and understanding of the functionally important domains of the galactokinase protein is still limited. Here we report four novel mutations in GALK1 that were identified in two unrelated patients with galactokinase deficiency. Three of these were amino acid substitutions: 1569C-->T in exon 2 (R68C); 7093C-->T in exon 6 (T288M) and 7538G-->C in exon 8 (A384P). In addition, a single base-pair deletion was found in exon 5 (2833delC), predicted to result in a shift of the reading frame and a premature termination codon at position 263. Some differences with the GALK1 sequence deposited in Genbank are also reported.
Human mutation.Hum Mutat.2001;17(1):77-8.
Galactokinase deficiency is an inborn error of galactose metabolism whose major clinical manifestation is the development of cataracts during the first months of life. Only 20 mutations have been reported to date and understanding of the functionally important domains of the galactokinase protein is
PMID 11139256