Table 2 Diagnostic features and management of the most common IMDs triggered by sugars
From: Food triggers and inherited metabolic disorders: a challenge to the pediatrician
Disorders triggered by sugars | |||
|---|---|---|---|
CG | Generalized GALE | HFI | |
Newborn screening | Yes | Yes | No |
Food triggers | Breast milk, infant formulas and foods containing galactose or lactose | Breast milk, infant formulas and foods containing galactose or lactose | Fructose-, sucrose-, and sorbitol- containing foods |
Age of onset | Within a few days after breastfeeding or when lactose-containing formula feeding is started | Within a few days after breastfeeding or when lactose-containing formula feeding is started | At the time of weaning or after supplementary food |
Main presenting features | Poor feeding, vomiting, hepatomegaly, jaundice, liver failure, sepsis, cataracts | Poor feeding, vomiting, hypotonia, hepatomegaly, jaundice, liver failure, cataracts | Vomiting, postprandial hypoglycemia, progressive liver dysfunction, aversion to fructose-containing foods and sweets |
Main routine laboratory findings | Liver damage, increased plasma galactose, urinary reducing substances | Liver damage, increased plasma galactose, urinary reducing substances | Hypoglycemia, urinary reducing substances. Metabolic acidosis, liver and kidney damage in severe cases |
Diagnostic confirmation | Erythrocyte GALT enzyme activity, erythrocyte galactose-1-phosphate concentration. Genetic testing | Erythrocyte GALE enzyme activity, erythrocyte galactose-1-phosphate concentration. Genetic testing | IEF of Tf. Genetic testing |
Acute management | Specialist centre. Lactose-free infant formula | Specialist centre. Lactose-free infant formula | Specialist centre. Prompt correction of hypoglycemia |
Chronic management | Lactose-free, galactose-restricted diet throughout life | Lactose-free, galactose-restricted diet throughout life. | Fructose-, sucrose-, and sorbitol-restricted diet. Vitamin C supplementation |
Natural history | Extreme variability in long-term outcome. Dyspraxias, learning disabilities, mental retardation, ataxia, tremors, and premature ovarian insufficiency in females may be present | Limited long-term outcome data. No evidence of premature ovarian insufficiency in females | Benign disease if appropriately diagnosed and treated |