Galactosemia in three Filipino patients - The importance of newborn screening / (Record no. 3111)

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Title Galactosemia in three Filipino patients - The importance of newborn screening /
Statement of responsibility, etc. John Karl de Dios [and two others]
520 3# - SUMMARY, ETC.
Summary, etc. Disorders of galactose metabolism can be fatal if not treated early. Newborn screening has made it possible to detect and treat this disease. Three cases of galactosemia, one with galactokinase deficiency and two with galactose-1-phosphate uridyltransferase deficiency detected by newborn screening, are presented. Because of early detection and management, the first patient was spared the early complications of galactosemia and continues to grow and develop normally. The two other patients were diagnosed at 1 month, initial presentation included hepatomegaly and failure to thrive. Institution of treatment was able to reverse the acute complications and both are currently doing well. The importance of galactosemia newborn screening in preventing complications resulting from the disease is emphasized.
580 ## - LINKING ENTRY COMPLEXITY NOTE
Linking entry complexity note In: Acta Medica Philippina, 2009 vol 43 (2) pages: 15-17
650 #2 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Galactosemias
650 #2 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Neonatal Screening
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name de Dios, John Karl
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Capistrano-Estrada, Sylvia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chiong, Mary Anne D.
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Koha item type Journal Article
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Holdings
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    National Library of Medicine     DOH Central Library DOH Central Library Electronic Resource Section 02/27/2021   J000103 D0001J000103 02/27/2021 02/27/2021 Journal Article