Medical Metabolic Formulas Every Pediatrician should know Dr. Nawal Makhseed MBBS, FAAP, FRCPC, DABMGG, FCCMG Pediatric Metabolic Consultant Jahra, Adan, Farwaniya, and Maternity Hospitals

Management goals Giving Hope in Treatment Plan results Organizing patients support groups Support diet compliance Raise diet awareness and discussing the varieties !!! A fact ignored by central medical stores Enhancing disease knowledge again and again and again and again and again and …………..

Dietary management of IEM Restricted dietary management is the core of treating certain IEM Highly effective treatment in protecting the patient, and leading a normal life BUT …… In certain metabolic disorders EMERGENCY management is as important as long term management in protecting the child The circle goes on and on …… BECAUSE strict Long term management prevents catabolic crisis What are those diseases ?

Teamwork!!!!! Patient Patient Caregiver Metabolic doctor Doctor on call Caregiver Dietitian Local Doctor Laborotory Industry Food experts Food experts Doctor on call Caregiver Industry Patient Laborotory Dietitian Local Doctor

Dietary management  deliver patient benefits Better quality of life Children catch up in growth Patients gain strength and energy Faster recovery during illness Lower cost of care

Medical formulas/food: FSMPs Formulas/Foods for Special Medical Purposes or medical foods intended for patients who have been medically diagnosed and must be used under medical supervision. A fact ………………………………………………………..???????????????????????????????????????????????????????????????????????????????????????????????????????????????????????????????? Ignored by ???????????????????????????????

b-Energy containing formulas 2-Avoidance diet: Fat/ lactose/Fructose How? Condition specific nutritional treatment Non- condition specific nutritional support Low protein products 1- Avoidance diet: protein disorders a-Concentrated protein containing formulas b-Energy containing formulas 2-Avoidance diet: Fat/ lactose/Fructose FAOD/ Galactosemia/ Fructose intolerance Providing missing elements: Carbohydrate disorders GSD Gluconeogenesis dis Vitamins/ minerals Individual amino acids / mixed AA Essential fatty acids Oli: Medium chain TG Flavor packs Engineered foods Many in the market

Principles are clear Avoid offending compounds Provide deficient product Provide adequate energy to prevent catabolism Make sure all nutritional elements are met to ensure healthy and normal growth

Dietary management: Amino acids disorders Natural protein restriction Supplementation of the AA whose breakdown is blocked due to the metabolic defect, its recommended to divide the prescribed amount throughout the day Supplementation of the other nutrients Supplement adequate energy

Natural protein Breast feeding either directly or as EBM Every 100 ml EBM: contains 1 gram protein 72 calories Baby formulas Mainly use Nan1 Every 100 grams powder contains 9.6 grams protein Each scoop measure 4.3 grams: 0.3 grams protein 22.3 Kcal

Amino acids supplementation Supplementation of the amino acids whose breakdown is blocked……. ? Some are essential amino acids that the body needs to meet growth requirement and other molecules production There are several companies that does those special amino acid mixtures Nutricia Vitaflo Others

Nutricia Amino acid mixtures Used to be names according to the absence of the offending amino acid XP = NO pheynalanine XP Analog = from Zero to 1 year (per 100 grams powder: 13.1 grams protein, 457 Kcal) XP Maximaid = from 1-8 years ( per 100 grams powder: 25 grams protein, 339 Kcal) XP Maximum = from 8 years onward (per 100 grams powder: 39 grams, 309 Kcal) What is the difference between each type is Protein content Caloric intake

Nutricia PKU range – Infant/young child Per 36 gm sachet 457 135 10

Nutricia PKU range – older child/adult 297 39

MMA/PPA formulas XMTVI Analog XMTVI Maxamaid (1 – 8 years) XMTVI Maxamum (From 8 years) Methionine-, threonine-, valine-free and isoleucine –low powdered drink mix, containing amino acids, carbohydrate, vitamins, minerals and trace elements MMA PA Anamix Infant isoleucine –low powdered infant formula Supplemented with DHA & ARA and prebiotic fibres XMTVI Asadon isoleucine –low powdered amino acid mix

MSUD– infants (Nutricia) MSUD Anamix Infant Isoleucine-, leucine-, and valine- free powdered infant formula Supplemented with DHA & ARA and prebiotic fibres MSUD Anamix Junior (1-10 years) Unflavoured isoleucine-, leucine- and valine-free powder drink mix containing amino acids, carbohydrate, fat, vitamins, minerals and trace elements Convenient pre-weighed sachet presentation 10 gm Protein/ 135 Kcal per 36g sachet Contains essential fatty acids (LA and alpha-LNA) MSUD Anamix Junior LQ (From 1 year) Orange flavour isoleucine-, leucine and valine-free drink containing amino acids, carbohydrate, fat, vitamins minerals and trace elements Contains DHA Ready to drink 10g Protein per 125ml bottle

MSUD– older children and adults (Nutricia) MSUD Lophlex LQ (from 4 years) Ready to drink, isoleucine-, leucine- and valine-free protein substitute with vitamins, minerals and trace elements 20 g Protein/ 125 Kcal per 125ml pack Contains DHA Juicy berries flavour

IVA (Nutricia) IVA Anamix Infant Leucine-free and powdered infant formula Supplemented with DHA & ARA and prebiotic fibres 5 grams scoop XLEU Analog /Maxamaid/ Maximum Leucine-free powdered amino acids formula Containing carbohydrate, vitamins, minerals and trace elements XLEU Faladon Leucine-free powdered formula

Glutaric Aciduria type 1 (Nutricia) GA1 Anamix Infant Lysine free, low tryptophan powdered infant formula Supplemented with DHA & ARA and prebiotic fibres 5 grams scoop XLYS Low TRY Maxamaid (1 – 8 years) XLYS Low TRY Maxamum (From 8 years) Lysine free, low tryptophan powdered drink mix, containing amino acids, carbohydrate, vitamins, minerals and trace elements XLYS Low TRY Glutaridon Lysine free, low tryptophan powdered amino acid mix

Homocystinuria infants and young children (Nutricia) HCU Anamix Infant Methionine free powdered infant formula Supplemented with DHA & ARA and prebiotic fibres 5 grams scoop HCU Anamix Junior LQ (from 1 year) Orange flavour methionine-free drink containing amino acids, carbohydrate, fat, vitamins minerals and trace elements Ready to drink Contains DHA 10g Protein/ 125 Kcal per 125ml bottle

Homocystinuria: older children & adults (Nutricia) XMET Maxamaid (1 – 8 years) XMET Maxamum (From 8 years) Methionine free powdered drink mix, containing amino acids, carbohydrate, vitamins, minerals and trace elements XMET Homidon Methionine free powdered amino acid mix

Homocystinuria: older children & adults (Nutricia) HCU Lophlex LQ (from 4 years) Ready to drink, methionine-free protein substitute with vitamins, minerals and trace elements 20g Protein/ 125 Kcal per 125ml pack Contains DHA Juicy berries flavour HCU LV (HCU Lophlex Advance) (from 8 years) Concentrated methionine free powdered protein substitute with vitamins, minerals and trace elements 20g Protein/ 92 Kcal per 27.8 gm sachet

Tyrosinaemia - infants (Nutricia) TYR Anamix Infant Tyrosine and phenylalanine -free powdered infant formula Supplemented with DHA & ARA and prebiotic fibres 5 grams scoop Phe/Tyrosine and Methionine-free TYR Anamix Infant also available for the dietary management of tyrosinaemia when plasma methionine levels are raised.

Tyrosinaemia - young children (Nutricia) TYR Anamix Junior (1-10 years) Unflavoured tyrosine- and phenylalanine-free powder drink mix containing amino acids, carbohydrate, fat, vitamins, minerals and trace elements Convenient pre-weighed sachet presentation 8.4g PE per 29g sachet Contains essential fatty acids (LA and alpha-LNA) TYR Anamix Junior LQ (from 1 year) Orange flavour tyrosine and phenylalanine free drink containing amino acids, carbohydrate, fat, vitamins minerals and trace elements Contains DHA Ready to drink 10g Protein/ 125 Kcal per 125ml bottle

Tyrosinaemia– older children and adults (Nutricia) TYR Lophlex LQ (from 4 years) Ready to drink, tyrosine- and phenylalanine-free protein substitute with vitamins, minerals and trace elements 20g Protein/120 Kcal per 125ml pack Contains DHA Juicy berries flavour

Urea Cycle Disorders infant Anamix infant UCD Anamix infant Nutritionally complete All Essential Increased levels of BCAAs (branched chain amino acids) Additional energy from fats and carbohydrates Full micronutrient profile Added LCPUFAs e.g. DHA Fat source consists of a mixture of vegetable oils (olive, coconut and walnut oils) Used in combination with standard infant formula or breast milk – never sole source of nutrition

Essential Amino Acid Mix Essential Amino Acids mix is a powdered mix of essential amino acids. For use as a supplementary protein source, where essential amino acids only are required, rather than the whole protein or peptides Essential Amino Acid Mix may be used for those on low protein diets requiring essential amino acid supplementation and in the dietary management of certain urea cycle disorders and Arginase deficiency. 8

Urea cycle disorders > 6 Months of age Dialamine is a pale orange powder containing carbohydrate, essential amino acids, flavouring and inherently low levels of minerals. For the dietary management of urea cycle disorders, where an essential amino acid supplement is required. 8

OLD Monogen: 80% MCT and 20% LCT Nutritional content per 100 gm powder Energy 420 Kcal Protein 12.5 gm Carbohydrate 68 gm Fat in 100 gm powder MCT (80%) (84%) LCT (20%) (16%) 11 gm (12.9) 8.8 gm (10.84)   2.2 gm (2 gm) Ratio n6:n3 fatty acids 4.6:1 % from energy -linoleic acid -α-linolenic acid 1.0 % 0.2 1 %

Additional energy supplementation Carbohydrate modules : (UCD, organic acidemia, FAOD) (NOT in patients who needs ketogenic diet) Maxijul Super Soluble (suitable from birth) Polycal powder (suitable from birth) Polycal Liquid (from 3 years up) (Not available)

Additional energy supplementation Carbohydrate + fat modules: BUT Contraindicated in FAOD, avoided in Ketogenic diet Duocal Super Soluble (suitable from birth) Duocal Liquid (suitable from birth) (Not available)

Additional energy supplementation Fat modules: Medium chain triglycerides (MCT): : BUT Contraindicated in MCAD/MAAD MCT oil (suitable from birth) Liquigen (suitable from birth) Long chain triglycerides (LCT): BUT Contraindicated in FAOD Calogen Neutral (suitable from birth) Calogen flavoured (suitable from 3 years up)

Additional energy supplementation Vitaflo Neutral-tasting food fortifier and MCT supplement Each 16 g packet: 10.1 gm MCT

Emergency/ Energy supply SOS, color coded 10, 15, 20, 25 % Used in all metabolic emergencies Except in those on ketogenic diet

Vitalfo Cooler system

Vitaflo Cooler system

Cooler system

Express gel

Gel

UCCS with sustained release Lasting up to 8-10 hours GSD/ FAOD/Gluconeogenesis

Essential amino acids

Protein free milk Used for any disorder that needs to be treated with a protein restricted diet

Dietary management Team work Many formulas Dietary management has to be reviewed in each visit as compliance is the golden standard of managing these patients Meet patient’s need according to his progress, Compliance, tolerability, adequate intake, growth, new circumstances ….etc Always available to review things