4-Hydroxybutyric aciduria
摘要：
The clinical findings in six patients from three families with 4-hydroxybutyric are described. The onset of disease was in early infancy in all cases. All infants presented with severe global delay and severe hypotonia, and all patients had . Eye findings included in two patients, and in one. Three patients had , two had myoclonus and one had severe . The urine was 300-1000 times that of normal, and other related to its further or to its inhibitory effect on beta-oxidation were also increased. The administration of rapidly reduced the of promptly, and in the long-term its could be kept at 80-200 times that of normal. However, the clinical course of the disease improved in only two, remained the same in two, and worsened in the remaining two patients.
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关键词：
Humans Amino Acid Metabolism, Inborn Errors gamma-Aminobutyric Acid Sodium Oxybate Aldehyde Oxidoreductases Biological Markers Prognosis Succinate-Semialdehyde Dehydrogenase
DOI：
10.1002/bies.950010305
被引量：
年份：
1994
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