Metabolic diseases in children encompass a wide group of disorders in which the body cannot properly process certain nutrients, substances, or produce sufficient energy. Many are genetic in origin and are detected through newborn screening programs (heel blood test).

Main categories: Amino acid metabolism disorders (PKU — phenylketonuria, maple syrup urine disease), fatty acid oxidation disorders (MCAD deficiency), carbohydrate metabolism disorders (galactosemia, glycogen storage diseases), lysosomal storage diseases (Gaucher, Niemann-Pick), mitochondrial diseases.

Warning signs: Poor feeding, vomiting, unusual body odor, developmental regression, seizures, unusual lethargy, poor growth, large liver or spleen. Many metabolic diseases present with nonspecific symptoms that can be mistaken for other conditions.

Newborn screening: The Turkish national heel blood (Guthrie) test screens for PKU, hypothyroidism, CAH, biotinidase deficiency, and galactosemia. Extended metabolic screening (tandem mass spectrometry) can detect many more disorders and is available privately.

Management: Depends on the specific condition — may include special metabolic formulas, dietary restrictions, enzyme replacement therapy, or medications. Early diagnosis and treatment can prevent irreversible organ damage. Consult your pediatrician if you have concerns about metabolic disease.