Pediatric Nutrition in Practice

230 MacDonald^

Ta b l e 2.

Incidence, classification and symptoms of organic acidaemias

Condition Prevalence

Classification

Signs and Symptoms

Treatment

Complications

PA

UncertainEstimates: 1 in 50,000 to 1 in 500,000High in regions of Saudi Arabia (1 in 2,000 to 1 in 5,000)

Early onsetPresenting in neonatal period; severe illness follows introduction of protein-containing feedsLate onset (>6 weeks)Less common, and variable clinical presentation

Life-threatening illnessPoor feeding/feed refusalFaltering growthVomitingDehydrationDyspnoeaHypothermiaLethargyHypotoniaHepatomegalyDevelopmental delaySeizuresSomnolenceComa

1. Low-protein diet ± amino acid supplements free of methionine, threonine, valine and isoleucine2. Carnitine3. Metronidazole4. Sodium bicarbonate for acidosis5. Sodium benzoate for hyperammonaemia6. Emergency regimen during intercurrent infections

Neurological damageMovement disorders and dystoniaDevelopmental delayPoor growthHair lossNutritional deficiencies, e.g. selenium and zincAcute protein malnutritionDermatitisCandida infectionsRecurrent infectionsOsteoporosisAcute and recurrent pancreatitisHypocalcaemia due to parathyroid hormone resistanceCardiomyopathy

MMA

UncertainEstimates: 1 in 50,000

Methylmalonyl-CoA mutase phenotypes:Mut

0 (no mutase activity)

Mut

• (residual mutase activity)
  Cobalamin disorderscblAcblBCobalamin reduction pathway disorderscblCcblD

Poor feeding/feed refusalFaltering growthVomitingCandida infectionsHypotoniaDehydrationDyspnoeaLethargyProgressive encephalopathyHepatomegalyDevelopmental delaySeizures

1. Vitamin B

for responsive patients 12

2. Low-protein diet ± amino acid supplements free of methionine, threonine, valine and isoleucine3. Carnitine4. Metronidazole5. Sodium bicarbonate for acidosis6. Sodium benzoate for hyperammonaemia7. Emergency regimen during intercurrent infections

Neurological damageHypotoniaNeurodevelopmental delayLearning difficultiesBasal ganglion damage and stroke-like symptomsPoor growthHair lossNutritional deficiencies, e.g. selenium and zincAcute protein malnutritionOsteoporosisAcute and recurrent pancreatitisTubular acidosis with hyperuricaemiaChronic renal failureCardiomyopathy

Isovalericacidaemia

Unknown

Acute, severe neonatal formChronic intermittent form

Episodic vomitingPoor feeding/feed refusalHypotoniaDehydrationDyspnoeaLethargyHypothermiaSweaty feet odourProgressive encephalopathyPsychomotor delaySeizures

1. Low-protein diet ± amino acid supplements free of leucine2. Carnitine3. Glycine4. Emergency regimen during intercurrent infections

Neurological damageNatural aversion to protein-containing foodsPancreatitisFaltering growthLearning difficulties

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