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

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

Asian Biomedicine
Volume 9 (2015): Issue 1 (February 2015)
By: Thitima Ngoenmak,  Julintorn Somran,  Chutima Phuaksaman and  Jaruwat Khunrat  
Open Access
|Jan 2017

Figures & Tables

Figure 1

A. Hematoxylin and eosin staining (×200). B. Masson trichrome staining (×200). Severe hepatocellular damage with giant cell transformation, intralobular, and portal fibrosis
A. Hematoxylin and eosin staining (×200). B. Masson trichrome staining (×200). Severe hepatocellular damage with giant cell transformation, intralobular, and portal fibrosis

Figure 2

Gas chromatography-mass spectrometry demonstrates an increase excretion of galactose, galactitol, and galactonate in the patient’s urine.
Gas chromatography-mass spectrometry demonstrates an increase excretion of galactose, galactitol, and galactonate in the patient’s urine.

Figure 3

A. Hematoxylin and eosin staining (×100) and B. Masson trichrome staining (×100). Follow-up liver biopsy, after galactose restriction revealed no active liver damage, but residual fibrosis was demonstrated by Masson trichrome staining.
A. Hematoxylin and eosin staining (×100) and B. Masson trichrome staining (×100). Follow-up liver biopsy, after galactose restriction revealed no active liver damage, but residual fibrosis was demonstrated by Masson trichrome staining.

Figure 4

The Leloir pathway and alternative pathways for galactose metabolism: dotted lines a = aldose reductase and b = pentose phosphate pathway. 1 = hexokinase, 2 = phosphoglucomutase, 3 = UDP-glucose pyrophosphorylase. GALK = galactokinase, GALT = galactose-1-phosphate uridyl transferase, GALE = galactose-6-phosphate epimerase.
The Leloir pathway and alternative pathways for galactose metabolism: dotted lines a = aldose reductase and b = pentose phosphate pathway. 1 = hexokinase, 2 = phosphoglucomutase, 3 = UDP-glucose pyrophosphorylase. GALK = galactokinase, GALT = galactose-1-phosphate uridyl transferase, GALE = galactose-6-phosphate epimerase.

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

Sethond case [11]Third case [12]Present case
Age2 months11 days4 months
SexFemaleMaleMale
Family HistoryNonconsanguinityNonconsanguinityNonconsanguinity
Clinical features
Poor feedingYesYesYes
VomitingNoYesYes
HepatomegalyYesYesYes
Gram negative sepsisNoNoYes
Lethargy and hypotoniaNoYesYes
CataractYesNoNo
Laboratory
Cholestasis jaundiceYesYesYes
Urine GC/MSRising galactose, galactitol, and galactonateRising galactose, galactitol, and galactonateRising galactose, galactitol, and galactonate
Genetic analysisNoMutation of p.R259W in exon 8 and p. E340K in exon 10No
Liver biopsy findingNoNoSevere hepatocyte loss with giant cell transformation and cholestasis
Long-term complicationsUnavailableUnavailableDelayed development and defects on speech
DOI: https://doi.org/10.5372/1905-7415.0806.375 | Journal eISSN: 1875-855X | Journal ISSN: 1905-7415
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Language: English
Page range: 95 - 100
Published on: Jan 31, 2017
Published by: Chulalongkorn University
In partnership with: Paradigm Publishing Services
Publication frequency: 6 issues per year
Keywords:
Acute neonatal toxicity,
classic galactosemia,
galactose-1-phosphate uridyl transferase,
long-term complications,
urine gas chromatography-mass spectrometry
Related subjects:
Medicine,
Assistive professions, nursing,
Basic medical science,
Basic medical science, other,
Clinical medicine,
Clinical medicine, other

© 2017 Thitima Ngoenmak, Julintorn Somran, Chutima Phuaksaman, Jaruwat Khunrat, published by Chulalongkorn University
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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