| Autor: |
Sankaran, K., Casey, R. E., Zaleski, W. A., Mendelson, I. M. |
| Předmět: |
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| Zdroj: |
Clinical Pediatrics; Oct1982, Vol. 21 Issue 10, p636-637, 2p |
| Abstrakt: |
This article presents a medical case that describes an infant girl with a severe form of nonketotic hyperglycinemia diagnosed at three days of age and treated intravenously with sodium benzoate and strychnine sulfate. Nonketotic hyperglycinemia is an inborn error of amino acid metabolism resulting from a defect in the glycine cleavage enzyme system. It is characterized biochemically by elevated concentrations of glycine in plasma, spinal fluid and urine and clinically by respiratory failure, muscular hypotonia, myoclonic seizures, feeding difficulties and extreme lethargy. The outcome is poor. Various methods of treatment, including those with oral sodium benzoate and strychnine combined with repeated exchange transfusions, were unsuccessful for sustained improvement. Examination of urine from one of the patient's siblings who had died revealed the presence of large amounts of glycine, but further investigations were not possible at that time. The similar clinical presentation of the present case led to suspicion of an inborn error of metabolism. |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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