2-Methylbutyryl-Coenzyme A Dehydrogenase Deficiency: A New Inborn Error of L-Isoleucine Metabolism
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چکیده
منابع مشابه
Aminoacylase I deficiency: a novel inborn error of metabolism.
This is the first report of a patient with aminoacylase I deficiency. High amounts of N-acetylated amino acids were detected by gas chromatography-mass spectrometry in the urine, including the derivatives of serine, glutamic acid, alanine, methionine, glycine, and smaller amounts of threonine, leucine, valine, and isoleucine. NMR spectroscopy confirmed these findings and, in addition, showed th...
متن کاملDefect in dimethylglycine dehydrogenase, a new inborn error of metabolism: NMR spectroscopy study.
BACKGROUND A38-year-old man presented with a history of fish odor (since age 5) and unusual muscle fatigue with increased serum creatine kinase. Our aim was to identify the metabolic error in this new condition. METHODS We used 1H NMR spectroscopy to study serum and urine from the patient. RESULTS The concentration of N, N-dimethylglycine (DMG) was increased approximately 100-fold in the se...
متن کامل3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis.
Serine concentrations were markedly decreased in the cerebrospinal fluid of two brothers with congenital microcephaly, profound psychomotor retardation, hypertonia, epilepsy, growth retardation, and hypogonadism. The youngest boy also had congenital bilateral cataract. Magnetic resonance imaging of the brain showed evidence of dysmyelination. Plasma serine as well as plasma and cerebrospinal fl...
متن کاملGlutaryl-Coenzyme A dehydrogenase deficiency
Key-words Disease name and synomyms Diagnosis criteria/definition Differential diagnosis Incidence Clinical description Treatment Etiology Diagnostic methods Genetic counseling and prenatal diagnosis Unresolved questions and outlook References
متن کاملHomocystinuria: a New Inborn Error of Metabolism Associated with Mental Deficiency.
It is now becoming generally noted that many diseases of hitherto unknown aetiology are due to inborn errors of metabolism in the sense in which Garrod (1923) used this term. Although these diseases cover the whole of medicine it has been particularly gratifying to note that mental disease, especially mental deficiency which currently is responsible for one of our main medical problems, has bee...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 2000
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-200006000-00025