Crystals hold the clue
A 21-day-old male infant, born as the first child to a nonconsanguineous couple, presented with nonspecific symptoms, signs, and superimposed infection. Investigations conducted were not conclusive to arrive at a diagnosis. In 6 days, the infant succumbed to his condition. Postmortem samples were an...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2017-01-01
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| Series: | Medical Journal of Dr. D.Y. Patil University |
| Subjects: | |
| Online Access: | http://www.mjdrdypu.org/article.asp?issn=0975-2870;year=2017;volume=10;issue=6;spage=582;epage=584;aulast=Varghese |
| Summary: | A 21-day-old male infant, born as the first child to a nonconsanguineous couple, presented with nonspecific symptoms, signs, and superimposed infection. Investigations conducted were not conclusive to arrive at a diagnosis. In 6 days, the infant succumbed to his condition. Postmortem samples were analyzed for metabolic substances, and liver biopsy was done. Urine metabolic screening showed the presence of amino acids and reducing substance. Further analysis proved the presence of galactose, generalized aminoaciduria, and liver biopsy with features of inborn error of metabolism. Further samples for higher investigations were not available, which draws attention to the need of being able to diagnose the condition early enough to save lives. We are suggesting a helpful, easy to perform, and cheap diagnostic test algorithm for diagnosing galactosemia in resource-poor settings. |
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| ISSN: | 0975-2870 2278-7119 |