Kernicterus by glucose-6-phosphate dehydrogenase deficiency: a case report and review of the literature.
Kernicterus by glucose-6-phosphate dehydrogenase deficiency: a case report and review of the literature.
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DOI：
10.1186/1752-1947-2-146
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发表时间：
2008-05-06
影响因子：
1
通讯作者：
Meraz EA
中科院分区：
文献类型：
--
作者：
de Gurrola GC;Araúz JJ;Durán E;Aguilar-Medina M;Ramos-Payán R;García-Magallanes N;Pacheco GV;Meraz EA
Glucose-6-phosphate dehydrogenase deficiency is an X-linked recessive disease that causes acute or chronic hemolytic anemia and potentially leads to severe jaundice in response to oxidative agents. This deficiency is the most common human innate error of metabolism, affecting more than 400 million people worldwide. Here, we present the first documented case of kernicterus in Panama, in a glucose-6-phosphate dehydrogenase-deficient newborn clothed in naphthalene-impregnated garments, resulting in reduced psychomotor development, neurosensory hypoacousia, absence of speech and poor reflex of the pupil to light. Mutational analysis revealed the glucose-6-phosphate dehydrogenase Mediterranean polymorphic variant, which explained the development of kernicterus after exposition of naphthalene. As the use of naphthalene in stored clothes is a common practice, glucose-6-phosphate dehydrogenase testing in neonatal screening could prevent severe clinical consequences.
