👶 Galactosemia. Infant, 8 months old. Symptoms began after the introduction of milk-based feeding:
- 🤢 vomiting and poor appetite
- 📈 enlarged liver
- ⬇ hypoglycemia
- ⚡ seizures
- 🌫 bloating, flatulence
- 🥛 aversion to fatty foods (slow gastrointestinal motility → nausea)
- 👁 cataracts — one of the earliest and most characteristic signs
🧫 In the bone marrow: cells with vacuolization and intracellular inclusions — typical for carbohydrate metabolism disorders.
🧬 Galactosemia is a congenital genetic metabolic disorder in which the body is unable to process galactose from milk.
⚠ Primary cause: deficiency or absence of the GALT enzyme (galactose-1-phosphate uridylyltransferase).
🧪 Upon milk intake, galactose is not utilized and accumulates in toxic forms:
- galactose-1-phosphate
- free galactose
- galactitol
💥 These substances damage:
- liver
- 🧠 brain
- 👁 lens (cataracts)
- kidneys
🙏This clinical case was kindly provided by Zebiniso Kholmuradova, morphologist, 🇺🇿 Uzbekistan, Kashkadarya Multidisciplinary Children’s Medical Center.
