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Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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Galactosemia Risk factors

Introduction

Overview

Overview

The major risk factor for galactosemia is the presence of the defective gene(s).

Risk factors

Risk factors

Galactosemia is an inherited autosomal recessive disorder of galactose metabolism. Two defective alleles are necessary to manifest the condition.^[1]

Children born to carrier parents harboring the gene(s) run the risk of developing galactosemia.
Therefore, every child born to carrier parents has a 25% chance of developing the disorder.^[2]

References

References

↑ Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW; et al. (1993). “GeneReviews®”. PMID 20301691.
↑ Boonyawat B, Kamolsilp M, Phavichitr N (2005). “Galactosemia in Thai patient at Phramongkutklao Hospital: a case report”. J Med Assoc Thai. 88 Suppl 3: S275–80. PMID 16858969.