<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...

	Sethond case [11]	Third case [12]	Present case
Age	2 months	11 days	4 months
Sex	Female	Male	Male
Family History	Nonconsanguinity	Nonconsanguinity	Nonconsanguinity
Clinical features
Poor feeding	Yes	Yes	Yes
Vomiting	No	Yes	Yes
Hepatomegaly	Yes	Yes	Yes
Gram negative sepsis	No	No	Yes
Lethargy and hypotonia	No	Yes	Yes
Cataract	Yes	No	No
Laboratory
Cholestasis jaundice	Yes	Yes	Yes
Urine GC/MS	Rising galactose, galactitol, and galactonate	Rising galactose, galactitol, and galactonate	Rising galactose, galactitol, and galactonate
Genetic analysis	No	Mutation of p.R259W in exon 8 and p. E340K in exon 10	No
Liver biopsy finding	No	No	Severe hepatocyte loss with giant cell transformation and cholestasis
Long-term complications	Unavailable	Unavailable	Delayed development and defects on speech

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

Article Category: Clinical report

Published Online: Jan 31, 2017

Page range: 95 - 100

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

Keywords
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.

Figure 1

Figure 2

Figure 3

Figure 4

The clinical features and laboratory results of Thai galactosemia cases in English literature

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

Article Category: Clinical report

Published Online: Jan 31, 2017

Page range: 95 - 100

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

KeywordsAcute 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.

Figure 1

Figure 2

Figure 3

Figure 4

The clinical features and laboratory results of Thai galactosemia cases in English literature

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