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1. 選択的IgE欠損症 selective ige deficiency
2. 選択的IgA欠損症：管理および予後 selective iga deficiency management and prognosis
3. 稀な（劣性遺伝性）凝固異常 rare recessively inherited coagulation disorders
4. アンチトロンビン（ATIII）欠乏症 antithrombin atiii deficiency
5. ビタミンB12および葉酸欠乏症の病因および臨床症状 etiology and clinical manifestations of vitamin b12 and folic acid deficiency

A 1.1 million base pair X-chromosomal deletion covering the PDHA1 and CDKL5 genes in a female patient with West syndrome and pyruvate oxidation deficiency.

Mayr JA, Koch J, Fauth C, Zimmermann FA, Rauscher C, Zschocke J, Sperl W.SourceDepartment of Pediatrics, Paracelsus Medical University, Salzburg, Austria.
Neuropediatrics.Neuropediatrics.2012 Jun;43(3):130-4. doi: 10.1055/s-0032-1309308. Epub 2012 Apr 2.
Mutations in the X-linked E1α subunit of the pyruvate dehydrogenase complex (PHDC) are the most frequent causes of PDHC deficiency. The clinical picture is heterogeneous depending on residual enzyme activity and X-inactivation. We report on a girl who presented at an age of 3 weeks with muscular hy
PMID 22473288

Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility.

Giribaldi G, Doria-Lamba L, Biancheri R, Severino M, Rossi A, Santorelli FM, Schiaffino C, Caruso U, Piemonte F, Bruno C.SourceDepartment of Neuroscience, Ophthalmology and Genetics, Child Neuropsychiatry Unit, G. Gaslini Institute, and University of Genoa, Genoa, Italy. gaiagiribaldi@ospedale-gaslini.ge.it
Developmental medicine and child neurology.Dev Med Child Neurol.2012 May;54(5):472-6. doi: 10.1111/j.1469-8749.2011.04151.x. Epub 2011 Dec 5.
Pyruvate dehydrogenase complex (PDHC) deficiency causes encephalomyopathies, of which there are four major categories: (1) neonatal encephalopathy with lactic acidosis; (2) an early infantile form, which (3) at times resembles Leigh syndrome; and (4) a later-onset form. Long-term clinical and radiol
PMID 22142326

SANTOSA Soegiarto,KUWANA Homare
The Japanese journal of genetics 67(2), 85-95, 1992-04-25
… The ace-9 mutant strain shows very weak activity of pyruvate dehydrogenase complex (PDHC). … Three strain that show no activity of PDHC had already been found, i.e., ace-2, ace-3, and ace-4. … Thus the ace-9 is the fourth gene that causes the deficiency in PDHC activity by a mutation. …
NAID 10006699005

BLASS J. P.,SHEU K.-F. R.,COOPER A. J. L.,JUNG E. H.,GIBSON G. E.
Ｊｏｕｒｎａｌ　ｏｆ　Ｎｕｔｒｉｔｉｏｎａｌ　Ｓｃｉｅｎｃｅ　ａｎｄ　Ｖｉｔａｍｉｎｏｌｏｇｙ　 38(Special), 401-404, 1992
… Because of Clinical and neuropathological overlap between The Characteristics of dementia of The Alzheimer type (DAT) and of a Human thiamin deficiency syndrome (Wernicke-Korsakoff syndrome), Thiamin pyrophosphate (TPP) dependent processes have been studied in DAT brain and other tissues. … The activities of 3 TPP-dependent enzymes are reduced in DAT brain: Transketolase (TK), The Pyruvate dehydrogenase Complex (PDHC), and The α-ketoglutarate dehydrogenase Complex (KGDHC). …
NAID 130001369607