Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.6.1.2 (alanine aminotransferase)
 26,722 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Over a three-year-period, 310 babies with prolonged jaundice admitted to GHKL were studied, to determine the incidence of alpha-1-antitrypsin deficiency as a cause of the problem. Ninety-two babies (29.7%) were found to be alpha-1-antitrypsin deficient. The percentage incidence was found to be highest in Indians (33.3%), followed by Malays (31.9%) and Chinese (26.7%). There was a male preponderance with a M:F ratio of 1.6:1. Most of these babies presented at the hospital at the age of more than two weeks but less than one month. Apart from the problem of prolonged jaundice and alpha-1-antitrypsin deficiency, 2 had associated bleeding problems, 11 associated infections and 3 respiratory problems. Two babies had clinical features of Down's syndrome, 2 had G6PD deficiency and 1 had congenital hypothyroidism. AST, ALT and ALPO4 were high in 20, 26 and 3 babies respectively.
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PMID:Alpha-1-antitrypsin deficiency in babies with prolonged jaundice. 130 30

This study investigated bilirubin levels in 282 1-month-old, healthy, term infants from the Adana region in southern Turkey. Total bilirubin was > 5 mg/dl in 20.2% of the infants and > 10 mg/dl in 6% of the group. Thyroid function and levels of alanine aminotransferase, aspartate aminotransferase and glucose-6-phosphate dehydrogenase were determined in babies with bilirubin levels > 5 mg/dl. The results were normal in all but one case, an infant with a bilirubin level of > 10 mg/dl and glucose-6-phosphate dehydrogenase deficiency. The results indicate that in this population a 5-mg/dl cut-off level for further investigation would mean that 20% of all infants would require further evaluation. This is not cost-effective. Based on our findings, we suggest that the cut-off level for investigating prolonged jaundice in term, 1-month-old, healthy infants in the Turkish population should be > 5 mg/dl.
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PMID:Serum bilirubin levels in 1-month-old, healthy, term infants from southern Turkey. 1236 86