What is the manifestation that a classic galactosemic child will NOT exhibit: cataract formation in the eyes, hyperglycemia, jaundice due to liver damage, hyperuricemia, or intellectual disability?

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From the Guidelines

The classic galactosemic child will not manifest high blood uric acid levels. Galactosemia is a genetic disorder that affects the body's ability to metabolize galactose, a sugar found in milk and other dairy products. The condition can lead to a range of symptoms, including cataract formation in the eyes, jaundice due to liver damage, and mental retardation if left untreated 1. Elevated blood glucose levels may also occur due to impaired glucose metabolism in the damaged liver. However, high blood uric acid levels are not typically associated with galactosemia. Some key features of galactosemia include:

  • Cataract formation in the eyes, which can be resolved with dietary galactose restriction initiated within the first two months of life 1
  • Jaundice due to liver damage caused by toxic metabolite buildup
  • Mental retardation if not treated promptly
  • Elevated blood glucose levels due to impaired glucose metabolism in the damaged liver In contrast, high blood uric acid levels are not a characteristic feature of galactosemia, and patients with this condition do not typically develop hyperuricemia. The clinical findings in GALK deficiency, a type of galactosemia, are consistent with cataracts, and other clinical abnormalities such as epilepsy, intellectual disability, pseudotumor cerebri, and neurofibromatosis were variably reported in a small percentage of patients 1.

From the Research

Classic Galactosemic Child Manifestations

The following are manifestations of a classic galactosemic child:

  • Cataract formation in the eyes, as galactitol accumulates in the lens 2, 3, 4, 5
  • Jaundice due to liver damage, resulting from the inability to metabolize galactose 2
  • Mental retardation, which can occur despite a galactose-restricted diet 2, 6
  • High blood uric acid levels are not typically associated with galactosemia, but rather with other conditions such as gout or Lesch-Nyhan syndrome

Blood Glucose Levels

  • Elevated blood glucose levels are not typically a manifestation of classic galactosemia, as the condition is characterized by an inability to metabolize galactose, leading to hypoglycemia rather than hyperglycemia 2

References

1
Guideline

Guideline Directed Topic Overview

Dr.Oracle Medical Advisory Board & Editors, 2025

2
Research

Classical galactosaemia revisited.

Journal of inherited metabolic disease, 2006

4
Research

Ophthalmic findings in classical galactosemia--a screened population.

Journal of pediatric ophthalmology and strabismus, 1989

5
Research

Galactose and cataract.

Survey of ophthalmology, 1988

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Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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