Nutritional aspects of

metabolic diseases
Chan YM
 Outline

• Inborn errors of metabolism

• Genetics disorders benefited by nutritional
support
• General principles of metabolic disease
management
• Lactose intolerance, urea cycle metabolic
disease
• Implications on growth & development of
newborns
• Dietary management
 Quiz

True or False

1. Infant formulas has higher protein

content than breast milk

Many of milder forms aa disorder may not

present in ind until after the introduction
of infant formula or milk, both of which
have higher prot content compared to
breast milk
Protein Carbohydrate Fat

Amino acid Glucose Free fatty acid

Protein Carbohydrate Fat

Amino acids Glucose Free fatty acids

Protein Carbohydrate Fat

Amino acids Glucose Free fatty acids

Protein Carbohydrate Fat

Amino acids Glucose Free fatty acids

Energy for body functions

Synthesis of new tissues
Growth
Protein Carbohydrate Fat

Amino acid Glucose Free fatty acid

BIOCHEMICAL REACTIONS
METABOLIC PATHWAYS

Energy for body functions

Synthesis of new tissues
Growth
A B C
 ENZYME X ENZYME Y

A B C
 ENZYME X

A B C
 ENZYME X

A B C
 ENZYME X

A B C
DEFICIENT !
 Inborn errors of metabolism (IEM)
• Comprise a large class of genetic diseases
involving disorders of metabolism
• Due to defects of single genes that code for
enzymes that facilitate conversion of various
substances into others
• Rare incidence
• Common form autosomal recessive inheritance
– ? Consanguinity
– India prevalence IEM: I in 2497 newborns Indian J Pedriatric, 2000)

• There is a number of anecdotal reports on IEMs in

Malaysia. However, the actual number of patients
from population-based studies is not known
 Inborn errors of metabolism (IEM)

• defect activity of specific enzyme/cofactor →

accumulation of compounds with harmful
effects & deficiencies of substrates essential
for normal growth & development
→ cellular intoxication, energy deprivation
 • In United States, 1:
4000 live births
• In Malaysia there is no
adequate information
to make estimates.
IEM • Number of patients
registered: around
IN MALAYSIA 1000 (one hospital)
• Public awareness is
still lacking
• Misdiagnose from
physician
• Parents who are taking
lightly about health
problems
 Types of inborn errors metabolism

Amino acid Disorders

Phenylketonuria (PKU), Maple syrup urine disesase
(MSUD), urea cycle disorders
Carbohydrate Disorders
Galactosemia, hereditary fructose intolerance, glycogen
storage disease
Fatty acid disorders
Medium chain acyl-CoA dehydrogenase deficiency
Long chain 3 hydroxycayl-CoA dehydrogenase
deficiency
 Major categories of IEMs
• Disorders of carohydrate metabolism
– e.g., glycogen storage disease
• Disorders of amino acid metabolism
– e.g., phenylketonuria, maple syrup urine disease
• Disorders of organic acid metabolism
– e.g., methylmalonic acidemia
• Disorders of fatty acid oxidation metabolism
– e.g., medium chain acyl dehydrogenase deficiency
• Disorders of mitochondrial function
– e.g., Kearns Sayre Syndrome
• Disorders of peroxisomal function
– e.g., Zewellger Syndrome
• Lysosomal storage disorders
– e.g., Gaucher disease
Major pathophysiological groups
Group Treatable?

1 Disorders of “intoxication” type Most

2 Disorders with “reduced fasting Most
tolerance”
3 Disorders with “disturbed mitochondrial Few
energy metabolism”
4 Disorders of “neurotransmittion” Few
5 Disorders due to “defects in Few
synthesis or catabolism of
complex molecules”
 Group 1: Disorders of “intoxication” type

• Acute intoxication:
1. Urea cycle disorders
2. Maple syrup urine disease (MSUD)
3. Organic acidemia eg methylmalonic acidemia,
Propionic acidemia, isovaleric acidemia
4. Galactosemia
5. Fructosemia
6. Long-chain fatty acid beta oxidation disorders

• Chronic intoxication:
1. Phenylketonuria
2. Homocystinuria
 Group 2: Disorders with “reduced fasting
tolerance”

• Glycogen storage disease

• Gluconeogenesis disorders
• Fatty acid beta oxidation disorders
 SYMPTOMS

• Depends on what type of disease

• Generally: vomiting, lethargy, drowsiness
• Developmental delay
• Newborn – jaundice, physical appearance similar to
sepsis
• Organomegaly
• Myopathy – muscle weakness
• Visual and hearing problem
• Tendency of avoiding certain types of food.
Inborn errors of metabolism (IEM)

Clinical manifestation when with metabolic

disorder
• Neonates
Acute central nervous system symptoms including
partial seizures, Infants & older children
Neurologic symptoms, poor growth or failure to thrive,
significant development delay,
Generally, nonspecific but some with striking
odour (e.g. rotten cabbage- tyrosinemia)
Inborn errors of metabolism (IEM)

Precursors (A & B) are unable to metabolize &

can build up
Schematic of Enzymatic Pathway

Inability to produce
Feedback inhibitors substrate D
_

A Enzyme
---------→
1
B ------→C ------X---→ D
Enzyme 2 Enzyme 3
 Goals of Medical nutrition therapy
(MNT)
• Maintain biochemical equilibrium for
affected pathway
• Provide adequate nutrients for growth &
development
• Support social & emotional
development

Medical nutrition therapy → modification of diet plan

Inborn errors of metabolism (IEM)

Defective enzyme 3 , the precusors (A & B) are unable to

metabolize & can build up. Inability to produce substrate D

Schematic of Enzymatic Pathway

Feedback inhibitors
_

A Enzyme
---------→
1
B ------→C ------X---→ D
Enzyme 2 Enzyme 3
General principles management MNT

• Restrict precursor (A & B) – limiting the

substrates prior to the block
• E.g Amino acid disorders- restrict individual amino
acid(s) → dietary protein intake
– Use of “synthetic/metabolic” formulas

• Replacement of end products (D)

• E.g. Glycogen storage disease type 1, enzymatic
block-> inability of glucose production. Rx –
frequent feeding of glucose
Amino acids disorders

Urea cycle disorder (UCD)

MSUD
 Urea cycle disorders

• One of the 2 most common IEM, together

with MSUD in Malaysia
• Incidence: 1 in every 30 000 births
• Malaysia (Asia Columbia): 1 in 1400 IEM
• HKL: 2 million/year spent
 Urea cycle disorders

• Group of disorders characterised by a

deficiency in one of the 6 enzymes in
urea cycle
– Buildup of ammonia (following protein
metabolism) → neurologic damage, coma or
death if untreated.
– Most common- Ornithine transcarbamylase
deficiency (OTC). Curative with liver
transplant
 Urea cycle disorders

• Initial symptoms- poor feeding &

somnolence
– Complete enzyme deficiencies recognized
after birth in infant; if partial enzyme
deficiencies its delayed for months or years
Urea cycle disorders: Treatment

• Protein restriction life long - for growth &

development without excess
– Protein need – sufficient to avoid negative nitrogen
balance
– Most pts need supplemental arginine (except those
with arginase deficiency)
– severe variant of disorder may need to replace some
protein with EAA mixture
• 25-50% of total protein provided as EAAs

• Use of medications (sodium benzoate & sodium

phenylbutyrate) as nitrogen scavengers & activate
alternative pathways for nitrogen excretion
 Urea cycle disorders :
Nutrition Concern
• Adequacy of essential amino acids,
micronutrient ( Fe, Zn), energy

• Monitoring protein intake adequacy

• Continous clinical, biochemical & nutrition

monitoring
– Adjust diet to maintain normal ammonia level
& nutrition adequacy
 How to Achieve Goal of MNT
• To ensure ratio of natural protein & amino
acid mixture according to tolerance &
plasma amino acids’ result
• To distribute feeding evenly throughout the
day
• Provide adequate calories from:
Low protein food
Specially formulated low protein food
Protein-free energy supplement (eg. MCT
oil, carborie)
 How to Achieve Goal of MNT
Eat moderately Low protein foods
eg Traditional Malaysian desserts (kuih lapis,
banana fritters etc)
Maple syrup urine disease (MSUD)
▪ Diagnosed by the presence of Clinical
features:
Elevated branched-chain amino acids
(BCAAs) and allo-isoleucine in plasma,
Elevated branched-chain hydroxyacids
and ketoacids (BCKAs) in urine

BCAAs: Valine, leucin and Isoleucin

 Types of MSUD
▪ Classic (onset: 4-7 days)
▪ Intermittent (onset: 12-24 months)
- may develop seizure during episodes of
illness
- At risk of mental retardation
 Manifestation of Classic MSUD
▪ Maple syrup odor at 12-24 hours
▪ Irritability and poor feeding by age 2-3 days
of life
▪ high pitched cry
▪ Signs of deepening encephalopathy
eg; fencing and bicycling at age 4-5 days of
life (stereotyped movement)
 Treatment of MSUD
▪ Consists of dietary leucine restriction,
BCAA-free medical foods, judicious
supplementation with isoleucine and
valine, and frequent clinical and biochemical
monitoring.
 Sick Day Management

❖ With-hold natural protein (temporary)

❖ administer IVD and intralipid as tolerance
❖Adequate calories to flush-out toxins,
inadequate calories will further  the
level of BCAAs
Phenylketonuria (PKU)
 Phenylketonuria (PKU)

❖ Rare metabolic disorder (Incidence rate: 1/12000 –1/30000)

- > common in Ireland (1 in 4000) & rarer in Finland (1 in 50000)
❖ Results from liver enzyme (phenylalanine hydroxylase) deficiency
❖ Infants are screened for PKU after birth & 1st feeding, repeated test
if Phe levels > cut-off levels
❖ International Consensus:

➔ Pts with Phe < 360 M on free diet: Phe-lowering dietary Rx is

not required
➔ Pts with Phe > 600 M: Required dietary Rx
➔ Rule of thumb: “Diet for Life”, esp for at child-bearing
age
 Consequences of Untreated PKU
1. Intellectual & neurologic deficits:
➔ Progressive severe Mental retardation (prevention: early
treatment)
➔ Delayed speech, seizures, eczema
➔Behaviour abnormalities (hyperactivity, self-abuse)
2.  Tyrosine (essential amino acids)
3. At risk for vitamin B12 deficiency
4. Poor reproductive outcomes
 Consequences of Untreated PKU
5.with PKU prone to have > change of babies with
- Congenital heart disease
- Retarded growth
- Mental retardation

** Prevention:
i) Initiation of low Phe diet be4 conception / early in pregnancy
not later than 8th gestation week
ii) Strict control of maternal Phe levels throughout pregnancy
 Objective of MNT for PKU
❖ Establish the child’s daily requirement for Phe, protein &
energy according to age
Inadequate Phe: bone changes, lethargy, stunted
growth, fever, anorexia, vomiting
❖ Prevent mental retardation
❖ Provide diet aiding growth & development
- A high energy: protein is needed
❖ Provide adequate protein sparing
❖ Introduce solids & texture at usual ages
 Objective of MNT for PKU
❖ Allow intellectually normal patients with PKU to develop
a normal social life
❖ Develop a +ve attitude toward the diet in patient, parent /
caretakers
❖ Prevent toxic build-up of abnormal metabolites
❖ Monitor for any nutrient deficiency
 MNT for PKU
❖ Diet must be nutritionally adequate in all aspects
* establish child’s daily requirement for energy, protein &
Phe
* to promote optima growth & development
* excess energy intake should be avoided
i) Parents tend to offer excessive energy (as child may being
deprived food experiences)
ii) PKU children are not chronically ill who require food
indulgences
iii) may cause food refusal / overweight
 MNT for PKU
❖ Recommended intake of nutrients: similar to other infants &
children, except for Phe and Tyr
❖Phe-restriction is a mandatory which includes specialized
Medical Foods
❖ Removal of Phe from protein in formulas / medical foods
 MNT for PKU
❖Use a diet low in Phe:
* average diet: 5% Phe in a protein food
* Special medical foods: milk substitute made from casein
hydrolysate, corn oil, corn syrup, tapioca starch,
minerals, vitamins
* Use Special medical foods for 85-100% of an infant’s
needs
* Initial acceptance may be poor due to strong taste
→ parents should be careful not to express own distaste
 MNT for PKU
❖Phe- restricted diet should begin immediately after diagnosis is
confirmed & Phe levels should be  as rapidly as possible
❖Breast feeding is encouraged along with Phe-free formula

❖Omit MFP, bread, milk, cheese, legumes and peanut

butters
❖Introduce solids & textures at appropriate ages
* Infant’s tolerance must be accessed individually
** Encourage self-feeding when possible
 MNT for PKU
❖To top-up calories
* Phe-free concepts
* Jam, jelly, sugar, honey, molasses, syrups, cornstarch, oils
❖Artificial sweeteners: TOTAL ABSTINENTS
-calorie drinks,  sugar foods (yogurt, desserts),
chewing gum
 MNT for PKU Severe restriction of
❖ Sources of Nutrients conventional foods →
Supplementation is
Protein: L-amino acids required!
* Tyrosine: essential amino acids in PKU, adequate
amounts to meet individual's needs for:-
- growth & tissue repair
- synthesis of protein, neurotransmitter & melanine
CHO: Corn syrup solids / modified tapioca starch /
sucrose & hydrolyzed cornstarch
Lipid: Variety of oils
+ Necessary vitamins & minerals
 Sources of Phenylalanine
❖ 1 gram protein  50mg Phe
❖ Practical approach to dietary management:
50mg Phe exchanges system
eg. Baked beans in tomato sauce (20g)
Milk (30ml)
Potatoes Chips (30g)
Cornflakes (15g)
Rice (white/brown, raw) (15g)
Rice (cooked) (45g)
 Menu Planning
❖ Foods allowed on Phe-restricted diet:
 Fruit & vegetables
 Bread & Cereal (small amounts)
 Fats
Milk & egg may be added in special circumstances, 1°
late pregnancy
❖ Portion sizes must be carefully measured
 More on Phenylalanine……
❖ High Phe foods are usually not permitted for younger-
age pts with “classical” PKU, except:
 older patients on > generous Phe intake
younger pts with “atypical” PKU
 may incorporate some of -Phe foods in diet
❖ High Phe foods:
All types of meat/ all varieties of fish/ Cheese, eggs,
soy, nuts, beans (red kidney beans), pulses/Textured
veg proteins & meat extenders/ Yeast & meat extracts
(Bovril, Marmite)
 More on Phenylalanine……
❖ Fruit & vegetables have  protein content and  Phe
❖Artificial sweeteners (Aspartame):
TOTAL ABSTINENTS
 -calorie drinks,  sugar foods (yogurt, desserts),
chewing gum
Toleration of Phe:
Infant: 70-90mg/kg/day
Rapid growth: 110mg/kg/d
 Purpose of Phe-restricted Diet

o To maintain serum Phe levels within Rx goals

( allow greatest development of intellectual
potential)
❖ Provide enough protein, tyrosine & energy for
growth & development promotion
❖ To meet vitamin, mineral and fluid needs of the
individual
 Phe-restricted Diet:
Is it worth doing????

Absence of treatment:
Majority of pts lose > 60 IQ points  leaving in 30-
50 IQ
Treated children:
 Near N range IQ levels of ~ 100
 Somewhat < expected IQ tests in unaffected
siblings
Factors influencing efficacy/ outcomes of
treatments

❖ Age at Rx initiation
 Inverse relationship between age at Rx initiation
& IQ
 Structural development of visual system
affected by  Phe levels during 1st 2 weeks of life
❖ Level/degree of metabolic control
 Related to developments of Cognitive Skills
(IQ, attention, reaction time) & behavioural
adjustments
 Dietary Discontinuation

❖ Early practitioners: Phe-restricted diet could be

discontinue during childhood
➔ 90% brain growth completed by 4-5 years of age
➔Untreated pts placed on Phe-restricted diet after
age 3 showed no improvement in IQ
❖ Be4 8 yrs of age:
 Poorer performance on IQ measures
  neuro transmitter synthesis
 Mild neurological impairment
 Behaviour problem
 Dietary Discontinuation –
continue….
❖ Effects on elder ages ( 12 years): less clear
❖ Adults: ➔Stable IQ scores
➔Manifest poorer performance on measures
of attention & speed of processing
THUS
 Allowance in some cases as age 
 Complete Discontinuation of Phe-restricted diet
is not recommended
 Regular referral to metabolic dietitian is required
 Low
LowPhe Protein
Phe Substitutes
Protein (LPPS)
Substitutes
• A variety of products available: differ from protein
source & content, +/- of CHO, fat, minerals &
vitamins
• Based on:
a) hydrolysed proteins (Phe is removed)
b) Mixture of synthetic amino acids (free of Phe)
eg: Milupa PKU
• Both have been used with success, allow for normal
growth & good biochemical control
• Several new products are currently being evaluated
 Completeness of Low Phe
Protein Substitutes (LPPS)
Bottle-fed infants:
Ordinary Infant formulas: Phe: Tyr = 1:1
Special formula for PKU:
Absolute amount of Tyr =  Phe + Tyr provided by
ordinary commercial infant formula
LPPS could be complete, providing sufficient quantity
 Completeness of Low Phe
Protein Substitutes (LPPS) – continue…
❖ Older children:
 LPPS can be mixed to drink/given as a paste or
supplement to boost protein content
 Difficulty & challenges  if LPPS serve as sole diet
(contain little natural food & variety ))
 Gradually change to special formula suitable for
children
 Change is made when table food (F&V, grains) provide
all of the add Phe
Special formula restricted
in phenylalanine
Natural low
protein food
Group 2: Disorders with “reduced fasting
tolerance”

• Glycogen storage disease

• Gluconeogenesis disorders
• Fatty acid beta oxidation disorders
GLYCOGEN STORAGE
DISEASES
 Normal glucose homeostasis
obviously requires an adequate intake
of carbohydrates
 Normal glucose homeostasis
requires intact hormonal regulatory system

Insulin
• Promotes glucose uptake into cells
• Inhibits glycogenolysis, gluconeogenesis
• Inhibits lipolysis
• Inhibits glucagon secretion
Glucagon
• Promotes glycogenolysis, gluconeogenesis
• Promotes lipolysis
• Inhibits insulin secretion
Cortisol, Growth hormone, Epinephrine
• Promotes gluconeogenesis
Normal glucose homeostasis requires functionally
intact gluconeogenesis system

• adequate endogenous glucogenic

substrates (amino acids, glycerol and
lactate
• intact metabolic pathways (gluconeogenic
enzymes)
Glycogen Storage Diseases (GSD)

• Group diseases reflecting inability to

metabolize glycogen to glucose
• Several possible enzyme defects along the
metabolism pathway
• Accumulation of glycogen in certain organs and
tissues, especially the liver, kidneys, and small
intestines, impairs their ability to function
normally.
• Several types, most common: Types I & III
 Clinical Manifestation
• Typically appear around the age of 3 or 4 months,
when babies start to sleep through the night and do
not eat as frequently as newborns
• Hypoglycemia, may lead to seizures
• Profound Hepatomegaly
• Buildup of lactic acid in the body (lactic acidosis),
high blood levels of a waste product (uric acid,
hyperuricemia)
• Abnormal biochemical parameters, esp for CHO &
TG
• Poor physical growth (children with GSDI have thin
arms and legs and short stature)
 GSD Type Ia, GSD Type Ib

• GSD Ia -Results from a deficiency of glucose-6-

phosphatase, normally found in liver, kidney and
intestinal mucosa.
• GSD Ib – results from a defect in the enzyme glucose-6-
phosphate translocase, affecting transfer of glucose-6-
phosphate into endoplasmic reticulum.
 GSD Type III

• Also known as debrancher enzyme deficiency

• Results from a deficiency of amylo-1, 6-
glucosidase
• Breakdown of glycogen beyond branch points is
prevented
• Similar to GSD I: glycogenolysis is inefficient
but gluconeogenesis is amplified to assist in
glucose production
• Usually less severe, but hypoglycemia or
hepatomegaly may appears
 Medical Nutrition Therapy

• Correct Primary Imbalance in Metabolic

Relationships
• Maintain normal plasma glucose throughout
day and night to promote growth and
development.
• Prevent hypoglycemia by providing constant
supply of exogenous glucose
 Dietary Prescription

• Diet high in starch

Advocated to
• Low fat dietary regime prevent
hypoglycemia
• Regular intervals of
uncooked cornstarch

• Avoid prolonged fasting > 5 to 7 hrs (especially

during intercurrent febrile illness)
• Some pts cannot tolerate fasting > 3.5 hrs
 Dietary Prescription - Energy

• Follow RDA/RNI for normal children

• To support normal growth and development
• Energy intake should be divided into day time feedings
(65 – 75% total energy) and nocturnal CHO infusion
(25 – 35% total prescribed energy)
• Excessive E intakes may cause obesity
 Protein

• Prescribe amount 10 – 15 % of daily requirement

• Protein from Free-lactose milk, animal protein, lactose-
free products.
 Fat

• Prescribe amount that provide 25 – 35 % of daily

requirement
• High intake may lead to obesity
• Encouraged intake of omega 3, and omega 6
(linoleic acid 3%, ά-linolenic acid).
 Dietary Prescription - Sugars

• Limits Sucrose, Fructose, Lactose,

Galactose as foods or medications
containing such item
• Fructose and galactose
- metabolized to glu-6- phosphate, can
elevate blood lactate & triacyglycerol [ ]
• Dietary lactose ~ 23 g/d (based on 0.5 L
milk)
 CHO
• Recommendation varies based on age, weight, and
maintenance of normoglycemia
• After 6 – 8 month of age, supply raw cornstarch at
1.25 – 2.5 g/kg body weight/feeding between meals
• Actual requirement may be adjusted to maintain blood
glucose [ ]
• UCCS should be calculated as part of prescribed CHO
energy
• UCCS may cause GIT distress (flatulence, colicky sx,
diarrhea) because pancreatic lipase has not reach normal
adult activity.
• Polycose, Carborie, Glucose are allowed
 Why UCCS???

• UCCS is slowly hydrolyzed by amylase and its slowly

absorbed from the GIT, providing a continuous source
of glc for entry into the systemic circulation for up to 6 –
7 hrs.
• UCCS is unpalatable
• UCCS has an even slower rate of digestion when eaten
alone.
• In combination with other macronutrients, the rate of
digestion of the macronutrients is slowed as well.
• Provide a sustained release of glc when eaten as part of
a bedtime snack.
 Nocturnal Feeding
• Some infants & children tolerate oral UCCS well via single dose
of cornstarch at bedtime
• Others might need glucose polymers administered via
nocturnal continuous-drip feeding to prevent hypoglycemia
attack
• Nocturnal feedings usually provide between 25% - 35% of total
daily requirement
 Nocturnal Feeding
• Overnight glucose delivery rates used to maintain
normoglycemia
Infants 7-9 mg/kg/min
Children < 6 y 5-7 mg/kg/min
6 y – 14 y 5 – 6 mg/kg/min
Adolescents 4 – 5 mg/kg/min
Adults 3 – 4 mg/kg/min
 Other Considerations
FLUID
• Offer minimum of 1.5 ml/kcal fluid to neonates
• Children and adults – 1 ml/kcal
• Requirement may be higher during fever

IRON SUPPLEMENTATION
• Require to maintain adequate hematologic
status as cornstarch interferes with iron
absorption
 Treatment Outcome

• Different treatment protocols: various kinds of CHO at

various doses during day and night time
• Proved to be good although treatment protocols are still
evolving (all with the same treatment goal:
normalization of blood glucose levels)
• Hazard of severe hypoglycemic episodes is diminished
Physical growth is improved
 Liver size
 Treatment Outcome

Outcomes have been significantly improved by 2

therapeutic approaches:
1. Continuous Nasogastric Feeding
2. Administration of raw cornstarch
 Recap
• Prompt diagnosis & appropriate treatment
to improve outcome

• Dietary restriction while ensuring adequate

energy & nutrient adequacy for growth &
development

• Complex needs- type & measured amount

 • Currently, no cure
• Early diagnosis help
prevent fatality (TMS – 3
drops of blood)
• Prevention, so that the
TREATMENT condition is stable
• Administration of
medication to lower toxic
substance
• Patient need to have
specific diet regime,
close watch on metabolic
rate.
• Regular checkup with
IEM specialist
• Unwavering support from
family and friends
Metabolic pathways of intermediary metabolism

Diet
enzyme
Substrate Product

Body
breakdown
 Metabolic pathways of intermediary metabolism
Deficient
Cofactor
or
Diet Abnormal Deficient
enzyme

Substrate Product


Body
breakdown
 Acute or chronic
Abnormal neurological
metabolites damage
 Main treatment strategies

SPECIAL DIET
Diet Abnormal Deficient
enzyme

Substrate Product

Body
breakdown

Abnormal
metabolites
 Concurrent treatment strategies
COFACTOR

Diet Abnormal Deficient

enzyme

Substrate Product

REPLACE
Body
breakdown

Abnormal REMOVAL
metabolites
 Dietary treatment involves

1. Minimize intake of offending precursor(s)/

amino acid(s)

2. Provide adequate calories and protein for

normal growth.

3. Ensure sufficient fluid intake

4. Adequate intake of all vitamins and
minerals.
SOCIETY and RESPONSIBLE BODIES
• Malaysia Rare Disorder Society
http://www.mrds.org.my/
• Malaysia Metabolic Society
http://mms.my/index.php
• Institute of Medical Research
http://www.imr.gov.my/sdc.html
 LINKS
•http://emedicine.medscape.com/article/804757-overview

•http://en.wikipedia.org/wiki/Inborn_error_of_metabolism

•http://en.wikipedia.org/wiki/Tandem_mass_spectrometry
•http://www.moh.gov.my/images/gallery/publications/mh/Mala
ysia%20Health
•%202007-2.pdf

•http://www.mrds.org.my/FactSheets/P5_IEM.pdf