galactose intolerance

Introduction

inability to absorb galactose often is not exclusively associated with inability to absorb glucose

Epidemiology

rare

Genetics

• autosomal recessive
• chromosome 22 defect

Clinical manifestations

• generally presents in first weeks of life
• severe diarrhea, leading to dehydration
• bloating
• excess gas production
• vomiting
• weight loss
• symptoms occur when fed breast milk or standard infant formula

Laboratory

• electrolytes: low serum bicarbonate (metabolic acidosis)
• genetic testing

Complications

• nephrolithiasis

Management

• fructose-based formulas that do not contain glucose or galactose
• affected children often tolerate glucose & galactose as they get older

More general terms

• carbohydrate inborn error of metabolism

Additional terms

• galactose
• galactosemia