Homocystinuria: A new inborn error of Metabolism associated with Mental Deficiency
نویسندگان
چکیده
منابع مشابه
Homocystinuria: 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...
متن کاملAminoacylase 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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BACKGROUND Asparagine synthetase deficiency (ASD) is a newly identified neurometabolic disorder characterized by severe congenital microcephaly, severe global developmental delay, intractable seizure disorder, and spastic quadriplegia. Brain MRI showed brain atrophy, delayed myelination, and simplified gyriform pattern. METHODS We report ASD deficiency in a 2- and 4-year-old sibling. On them,...
متن کاملSelective screening of 650 high risk Iranian patients for detection of inborn error of metabolism
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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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: Archives of Disease in Childhood
سال: 1963
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.38.201.425