Nutrition of Children with Inborn Errors of Metabolism

Nutrition of Children with Inborn Errors of MetabolismMoza Lootah U00034542

What Are Inborn Metabolic Errors?Definition:Inborn errors of metabolism are rare genetic disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects in specific proteins (enzymes) that help break down (metabolize) parts of food.www.nlm.nih.gov/medlineplus/ency/article/002438.htmClassifications

http://www.aafp.org/afp/2006/0601/p1981.html3

http://www.aafp.org/afp/2006/0601/p1981.html4

http://www.aafp.org/afp/2006/0601/p1981.html5Signs and Symptoms

PKUPKU symptoms can be mild or severe and may include:

Intellectual disability (formerly called mental retardation)Delayed developmentPsychiatric disordersHyperactivityPoor bone strengthSkin rashes (eczema)Abnormally small head (microcephaly)

GalactosemiaEarly symptoms may include:

Yellowing of the skin and whites of the eyesVomitingPoor weight gainFeeding difficultiesIrritability

GalactosemiaIf left untreated, later symptoms and complications may include:

Enlarged liver, enlarged spleenIntellectual disabilityLiver failureKidney problemsSwelling of the extremities or abdomen

Hereditary Fructose Intolerance

Lethargy (lack of energy)VomitingDiarrheaAbdominal painHypoglycemia (low blood sugar)Poor growth

Maple Syrup Urine Disorder:Poor appetiteTrouble sucking during feedingWeight lossHigh pitched crySleeping longer or more oftenTirednessIrritabilityVomitingDevelopmental delays

Diagnosis

Clinical Manifestations

Inborn Metabolic Diseases: Diagnosis and Treatment John Fernandes, Jean-Marie Saudubray, Georges Van den BergheSpringer, Jan 1, 2000 13Treatment

Correction of acid-base balance and hydration of immediate importanceMaintenance of adequate kcal to prevent tissue catabolismOffending metabolites restricted

14Urea cycle treatment

Chronic TherapyRestriction of precursorsReplacement of end productsProviding alternate substrates for metabolismUse of scavenger drugs to remove toxic by-productsSupplementation of vitamins or other cofactors

16Chronic-restrict precursor-supplemet end product-give alternative substrate for metabolism-supplement of vitamins + other cofactor nutrients Treatment

Not a long term solution. It gets terminated because of funds.18

June 30 2015

http://ajcn.nutrition.org/content/32/6/1279.full.pdf+html

There is a big difference in the amount of minerals and vitamins. This is because the subsitutes have excess amount since they are added in different ratio and from different sources.20Mineral and vitamin content of some semisynthetic products. (syrup solids, corn oil, vitamins, and minerals) are used to supply non-protein nutrient to the infants and children. (in excess compared to human milk) Lofenalac, MSUD-AID

excess of the quantities consumedIron is present in exceptional excess (30x)Some are completely missing

MSUD-AID: Maple Syrup urine disorder

Most of the vitaminsand minerals in the treatment products are incomparative excess of the quantities consumedby infants receiving human milk. Iron is present in exceptional excess (30-fold thatof human milk), as is biotin while inositol islow; some components of human milk aremissing altogether.

human milk is characterizedby: a protein content ofonly 0.9 g/dl (21Management and Prevention

PKUThe aims of management are to maintain blood phenylalanine concentration in the target range (100250 mol/L) before and throughout the pregnancy.Ensure adequate maternal nutrition and appropriate weight gain. Blood phenylalanine is monitored twice, three times a week, before and after conception respectively.Weight is monitored on a weekly basis and key micronutrients are monitored every 68 weeks in clinic.Dietary phenylalanine intake has to be promptly increased, as phenylalanine tolerance increases rapidly.Postnatal management includes a neurological assessment of the infant at 48 weeks and an echocardiogram for infants conceived off diet. Galactosemia Initial management:A-galactose must be excluded from the diet.

Long term management:Patients should be followed up throughout childhood and adult life.

DIET:

Galactose must be excluded from the diet throughout life.

AlcoholThere is no evidence to support the hypothesis that alcohol is more harmful to patients with galactosaemia than to the normal population.

PregnancyGalactose ingestion by heterozygous pregnant women has not been shown to have any adverse effect on the fetus. There is no evidence for milk restriction in such women during pregnancy.

Many medications, particularly tablets, contain lactose, and this should be checked before prescribing. However, in many cases, the amounts of galactose (compared with endogenous production) are insignificant, particularly if given for a short period.

Fructose IntoleranceComprising avoidance of foods containing substantial free fructose and short-chain fructans.

Maple syrup urine disorderPrevention of primary manifestations: Dietary management should allow age-appropriate tolerance of leucine, isoleucine, and valine, and maintain stable plasma. Use of a sick-day formula recipe ,combined with rapid and frequent amino acid monitoring allows many catabolic illnesses to be managed in the outpatient setting. Pregnancy management:For women with MSUD, metabolic control should be rigorously maintained before and throughout pregnancy by frequent monitoring of plasma amino acid concentrations and dietary adjustments.. Fetal growth should be monitored to detect any signs of essential amino acid deficiency.