<abstract xmlns="http://www.w3.org/1999/xhtml"><sec id="j_1905-7415.0806.375_s_101_w2aab3b7b1b1b6b1aab1c16b1Aa"><h3>Background</h3><p>Classic galactosemia is an inherited disorder of galactose metabolism that is caused by a deficiency of galactose-1-phosphate uridyl transferase (GALT). As in other Asians, the prevalence of galactosemia in Thai people is very low. An accumulation of its toxic metabolites leads to acute neonatal toxicity and long-term complications.</p></sec><sec id="j_1905-7415.0806.375_s_102_w2aab3b7b1b1b6b1aab1c16b2Aa"><h3>Objective</h3><p>To present the fourth known published case of classical galactosemia in a Thai infant and review the English language literature.</p></sec><sec id="j_1905-7415.0806.375_s_103_w2aab3b7b1b1b6b1aab1c16b3Aa"><h3>Method</h3><p>A 4-month-old boy who was born into a Thai family with no history of consanguinity developed persistent jaundice, hepatosplenomegaly, and lethargy, since introduction to breast-feeding.</p></sec><sec id="j_1905-7415.0806.375_s_104_w2aab3b7b1b1b6b1aab1c16b4Aa"><h3>Result</h3><p>Urine gas chromatography-mass spectrometry demonstrated a high level of galactose, galactitol, and galactonate. Liver biopsy confirmed severe hepatocellular damage and fibrosis. Breast-feeding was immediately replaced by a lactose-free diet and soy milk. His clinical features and subsequent laboratory measurements improved. Developmental delays and defects on speech presented at the last followed up.</p></sec><sec id="j_1905-7415.0806.375_s_105_w2aab3b7b1b1b6b1aab1c16b5Aa"><h3>Conclusion</h3><p>Long-term complications are diet-independent and inevitable. However early recognition and immediate withdraw of galactose from the diet can prevent serious morbidity and mortality.</p></sec></abstract>

BackgroundClassic galactosemia is an inherited disorder of galactose metabolism that is caused by a deficiency of galactose-1-phosphate uridyl transferase (GALT). As in other Asians, the prevalence of galactosemia in Thai people is very low. An accumulation of its toxic metabolites leads to acute neonatal toxicity and long-term complications.ObjectiveTo present the fourth known published case of classical galactosemia in a Thai infant and review the English language literature.MethodA 4-month-old boy who was born into a Thai family with no history of consanguinity developed persistent jaundice, hepatosplenomegaly, and lethargy, since introduction to breast-feeding.ResultUrine gas chromatography-mass spectrometry demonstrated a high level of galactose, galactitol, and galactonate. Liver biopsy confirmed severe hepatocellular damage and fibrosis. Breast-feeding was immediately replaced by a lactose-free diet and soy milk. His clinical features and subsequent laboratory measurements improved. Developmental delays and defects on speech presented at the last followed up.ConclusionLong-term complications are diet-independent and inevitable. However early recognition and immediate withdraw of galactose from the diet can prevent serious morbidity and mortality.

Classical galactosemia in a Thai infant: case report and review of the literature

Department of Pediatrics, Faculty of Medicine

Department of Pathology, Faculty of Medicine

Department of Radiology, Faculty of Medicine

Asian Biomedicine

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

BackgroundClassic galactosemia is an inherited disorder of galactose metabolism that is caused by a deficiency of galactose-1-phosphate uridyl transferase...

Classical galactosemia in a Thai infant: case report and review of the literature

Article Category: Clinical report

Data publikacji: 31 sty 2017

Zakres stron: 95 - 100

DOI: https://doi.org/10.5372/1905-7415.0806.375

Słowa kluczowe
Acute neonatal toxicity, classic galactosemia, galactose-1-phosphate uridyl transferase, long-term complications, urine gas chromatography-mass spectrometry

© 2017 Thitima Ngoenmak, Julintorn Somran, Chutima Phuaksaman, Jaruwat Khunrat

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Classical galactosemia in a Thai infant: case report and review of the literature

Article Category: Clinical report

Data publikacji: 31 sty 2017

Zakres stron: 95 - 100

DOI: https://doi.org/10.5372/1905-7415.0806.375

Słowa kluczoweAcute neonatal toxicity, classic galactosemia, galactose-1-phosphate uridyl transferase, long-term complications, urine gas chromatography-mass spectrometry

© 2017 Thitima Ngoenmak, Julintorn Somran, Chutima Phuaksaman, Jaruwat Khunrat

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Słowa kluczowe
Acute neonatal toxicity, classic galactosemia, galactose-1-phosphate uridyl transferase, long-term complications, urine gas chromatography-mass spectrometry