Pediatric Nutrition in Practice

232 MacDonald^

Ta b l e 3.

Incidence, classification and symptoms of MCADD and carbohydrate disorders

Condition

Prevalence

Classification

Signs and Symptoms

Treatment

Complications

MCADD

1 in 12,000

-^

20,000 in the UK, USA and Australia

Common mutation is c.985A>G and is associated with clinically severe presentationMilder forms have uncertain clinical relevance

Acute ‘hypoketotic’ hypoglycaemic encephalopathy and liver dysfunction

Frequent regular feeds in 1st year of life>1 year: avoid fasting for >12

-^ 14 h

Dietary fat restriction unnecessaryEmergency protocol for intercurrent infections, surgery or other conditions requiring prolonged fasting (regular feeds from glucose polymer); if not tolerated or feasible, will require glucose-containing IV fluids)

Developmental delay secondary to acute metabolic event

Galacto-saemia

1 in 16,000 to 1 in 40,000 in Western Europe

Deficiency of GALTClassic galactosaemia: GALT enzyme activity <5% of controlsDuarte variant: GALT activity is approx. 25% of control values

Feeding problemsFaltering growthHepatocellular damageBleedingLiver failureSepsisNeonatal deathCataractsIntellectual disabilityDevelopmental delayVerbal dyspraxiaAbnormalities of motor function

Low-galactose diet (lactose free)Lactose-free medications

Premature ovarian dysfunctionDelayed growthOsteopeniaOsteoporosis

HFI

1 in 20,000(1 in 11,000 to 1 in 100,000)

Deficiency of fructose 1-phosphate aldolase activity

NauseaVomitingRestlessnessPallor, sweating, tremblingLethargyHepatomegaly, jaundiceHaemorrhageProximal renal tubular syndromeHepatic failure and death

1. Fructose-, sucrose- and sorbitol-free diet2. Sucrose-/fructose-free multivitamin supplement3. Fructose-, sucrose- and sorbitol-free medications

Liver and kidney dysfunction

GSD

1 in 100,000 1 in 8 GSD I patients have type Ib 1 in 100,000

GSD Ia (von Gierke)Glucose-6-phosphatase deficiency GSD Ib (von Gierke)Glucose-6-phosphate translocase deficiencyGSD III (Cori/Forbes)Deficiency of debranching enzyme and of subtypesGSD IIIa: 85% of all GSD IIIGSD IIIb: 15% of all GSD III

HepatomegalyHypoglycaemiaHyperlipidaemiaLethargySeizuresDevelopment delayProtuberant abdomenSame as in GSD IaNeutropeniaInfectionsInflammatory bowel diseaseHepatomegaly(Cardio)myopathyShort statureHypoglycaemiaGSD IIIa: symptoms related to liver disease and progressive muscle (cardiac and skeletal) involvementGSD IIIb: symptoms primarily related to liver disease

1. Lactose-free (± sucrose-/fructose-free) formula (but breast milk not contraindicated)2. Frequent, small daytime feedings with avoidance of fasting (high in complex carbohydrate)3. Continuous overnight tube feedings of glucose4. Uncooked cornstarch >1 year (starting dose of 1 g/kg/dose): titrate dose according to glucose/lactate monitoring5. Protein (10
   -^ 15%) of recommended total energy intake
   6. Vitamins/minerals/essential and LC PUFA7. Emergency protocol for intercurrent infections (continuous tube feedings from glucose polymer)8. Xanthine-oxidase inhibitor (allopurinol) to prevent gout9. Lipid-lowering medications1. High-protein diet2. Uncooked cornstarch >1 year (starting dose of 1 g/kg/dose): titrate dose according to glucose/lactate monitoring; regular feeding3. Vitamins/minerals/essential and LC PUFA4. Emergency protocol for intercurrent infections (continuous tube feedings from glucose polymer)

Short statureOsteoporosisDelayed pubertyGoutRenal diseasePulmonary hypertensionHepatic adenomasPolycystic kidneysPancreatitisNeurocognitive effectsMenorrhagia CardiomyopathyMyopathyPoor growthOsteoporosis and osteopeniaPolycystic ovary disease

GALT = Galactose-1-phosphate uridylyltransferase; LC PUFA = long-chain polyunsaturated fatty acids.

Koletzko B, et al. (eds): Pediatric Nutrition in Practice. World Rev Nutr Diet. Basel, Karger, 2015, vol 113, pp 226–233

DOI: 10.1159/000360344