Mutations in ACY1, the Gene Encoding Aminoacylase 1, Cause a Novel Inborn Error of Metabolism
نویسندگان
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...
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Two siblings with fatal Leigh disease had increased excretion of S-(2-carboxypropyl)cysteine and several other metabolites that are features of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency, a rare defect in the valine catabolic pathway associated with Leigh-like disease. However, this diagnosis was excluded by HIBCH sequencing and normal enzyme activity. In contrast to HIBCH deficiency,...
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Objective: Although metabolic diseases individually are rare ,but overall have an incidence of 1/2000 and can cause devastating and irreversible effect if not diagnosed early and treated promptly. selective screening is an acceptable method for detection of these multi presentation diseases.Method: using panel neonatal screening for detection of metabolic diseases in 650 high risk Iranian patie...
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15 صفحه اولAn Inborn Error of Fructose Metabolism
Although essential fructosuria has been known for 70 years and has been recognized as an inborn error of metabolism for more than 20 years (Lasker, 1941), it is only recently that a second metabolic anomaly involving fructose has been described by Froesch, Prader, Labhart, Stuber and Wolf (1957). These authors recorded four affected (two children and two adults) and three probably affected memb...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2006
ISSN: 0002-9297
DOI: 10.1086/500563