Dilemma in diagnosing Metabolic Disorder: A case of Galactokinase Deficiency with an unusual presentation

Authors

  • Prasun Rajbhandari Birat Medical College and Teaching Hospital https://orcid.org/0000-0001-9408-5807
  • Hem Sagar Rimal Birat Medical College and Teaching Hospital
  • Sonia Dahal Birat Medical College and Teaching Hospital

DOI:

https://doi.org/10.3126/bjhs.v6i2.40362

Keywords:

Cystic fibrosis, Galactokinase, GALK1 Gene, Immunoreactive Trypsinogen

Abstract

An infant with metabolic disorder can have vague presentations like repeated chest infections, feeding intolerance and failure to thrive. This may lead to a diagnostic dilemma.  Detailed clinical history together with biochemical investigations are must to reach a diagnosis. Galactokinase Deficiency (GKD) has a varied presentation with some features like microcephaly, juvenile cataracts and failure to thrive. We encountered a case of GKD in an infant in which there was an absence of cataracts. Raised Immunoreactive Trypsinogen (IRT) in Newborn Screening was strongly suggestive of  Cystic Fibrosis (CF), however Genetic Analysis revealed a heterozygous missense variation in EXON4 of the GALK1 GENE, confirming the diagnosis of GKD. Hence, this case highlights the importance of considering different metabolic disorders as differential diagnoses of one another even in absence of a typical feature of a particular disorder.

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Author Biographies

Prasun Rajbhandari, Birat Medical College and Teaching Hospital

Intern, Department of Pediatrics

Hem Sagar Rimal, Birat Medical College and Teaching Hospital

Head of Department, Department of Pediatrics

Sonia Dahal, Birat Medical College and Teaching Hospital

Lecturer, Department of Pediatrics

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Published

2021-11-03

How to Cite

Rajbhandari, P. ., Rimal, H. S. ., & Dahal, S. . (2021). Dilemma in diagnosing Metabolic Disorder: A case of Galactokinase Deficiency with an unusual presentation. Birat Journal of Health Sciences, 6(2), 1582–1584. https://doi.org/10.3126/bjhs.v6i2.40362

Issue

Section

Case Reports