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METABOLIC DISORDERS

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on 2 November 2016

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Transcript of METABOLIC DISORDERS

Multidisciplinary
team care
Dietetic Management of Inherited Metabolic Disorders
Risks
Manifestations vary from those of acute life-threatening disease to sub-acute progressive degenerative disorder
One of the classifications
depending on the particular metabolites
Early symptoms in the antenatal and neonatal period
Later-onset acute and recurrent attacks of symptoms such as encephalopathy, irritability, coma, ataxia, vomiting, acidosis, hyperammonemia, hypoglycemia and respiratory distress
Chronic and progressive generalized symptoms which can be mainly gastrointestinal (chronic vomiting, FTT), muscular or neurological (developmental delay, neurological deterioration) such as seizures and hypotonia
Specific and permanent organ presentations suggestive of an inborn metabolic disease, such as cardiomyopathy, hepatomegaly, lens dislocation, renal impairment, etc.
Metabolic
Dietitian
Medical Genetic
Physician
Disorders of
Carbohydrate
Metabolism
Disorders of
Protein/Amino Acid
Metabolism
Fatty Acid Oxidation Disorders
Galactosemia
GSD
Hereditary Fructose Intolerance
PKU
MSUD
living organized substance is produced and maintained
(anabolism)
Enzyme/ Co-factor
Inherited
Metabolic
Diseases
Metabolism
IEM/IMD are disorders in which there is a block at some point in the normal metabolic pathway caused by genetic defect or specific enzyme
The sum of all the physical and chemical processes
By Which
also the transformation

By Which
energy is made available for the uses of the organism
(catabolism)
A substance produced by the body to assist in a chemical reaction
Inherited
Metabolic
Diseases
a large class of genetic diseases involving disorders of metabolism
Diseases Covered by the Saudi Newborn Screening
Panel A: Diseases Covered by Tandem Mass Spectrometry:
1. Phenylketonuria (PKU)
2. Maple Syrup Urine Disease (MSUD)
3. Argininosuccinase Deficiency (ASL)
4. Citrullinemia (ASD)
5. HMG-CoA Lyase Deficiency (HMG)
6. Isovaleric Acidemia (IVA)
7. Methylmalonic Acidemia (MMA)
8. Propionic Acidemia (PA)
9. Beta-keto Thiolase Deficiency (BKT)
10. Glutaric Acidemia type-I (GA-I)
11. Medium-chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
12. 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC)
Panel B: Diseases Covered by Kit-based Assays:
1. Galactosemia
2. Congenital Hypothyroidism (CH)
3. Congenital Adrenal Hyperplasia (CAH)
4. Biotinidase Deficiency (BD
Acute Metabolic Encephalopathy (effects of accumulating metabolites on the central nervous system (CNS)
Hyperammonemia
Metabolic Acidosis
Mountain climbing
offers the ultimate challenge of strength
endurance
and sacrifice
It can be highly dangerous, even fatal

Inexperience, poor planning, and inadequate information can all contribute to injury or death, so knowing what to do right matters.

Despite all the negatives, when done right, mountain climbing is an exciting, exhilarating, and rewarding experience.
Clinical Presentation
The Key...
PKU patient diagnosed at birth
she's 4month old now, consiuming
her medical formula well. On her Fu
appointment we found PHE level
elevated at
400 uM
(normal range is 10-180 uM)
What we should do?
When we have to repeat it?
PA
MMA
TYR
IVA
HMG
B-Ketothiolase Deficiency
GA 1
UCD
Homocystinuria
Consanguinity
Baseline investigation in IMD
Glucose
Blood gas and electrolytes
Lactate
Ammonia
Liver function tests
CK
Urine ketones
PHE Free
PHE & TYR Free
ILE, LEU &VAL Free
LEU Free
ILE Free
VOMIT / Free
V. Valine
O. Odd chain fatty acids
M. Methionine
I. Isoleucine
T. Threonine
Lysine & Tryptophan Free
Methionine
Hypoglycemia
Dysmorphic Features
Mental retardation
Bedour Handoom
Metabolic Dietitian
King Faisal Specialist Hospital & Research Centre
bhandoom@kfshrc.edu.sa
References..
Journal Of The American Academy Of Paediatrics, A Guide To Diagnosis, Article
Inborn Metabolic Diseases, Book
Nutrition Support Protocols, The Ross Metabolic Formula System, Book
The Children's Hospital, IMD Clinic, Colorado, Visual Aids
Pediatric Manual Of Clinical Dietetics, ADA, Book
Galactose Free
ADMISSION
Nursing
Clinical Instructors
Counseling
Public-awareness
Social-services
Laboratory
National lab
others
New Born Screening
Period: Aug 2005 to October 2006
Number of specimens: 56,828
Number of confirmed cases: 75
Incidence: 1:758
NLNBS
The idea of testing all newborn babies for disorders began in the 1960s with the development of a screening test for Phenylketonuria a metabolic disorder. Babies are tested to identify serious or life-threatening conditions before symptoms begin. Such diseases are usually rare. However, they can affect a baby's normal physical and mental development.
Aug 2005 Saudi National Newborn Screening Program (SNBS) STARTED
Dr. Robert Guthrie
Dietetic Management of Inherited Metabolic Disorders

Bedour Handoom
Metabolic Dietitian
King Faisal Specialist Hospital & Research Centre
bhandoom@kfshrc.edu.sa
Enzyme/ Co-factor
A substance produced by the body to assist in a chemical reaction
Carnitine Transport Defect (Primary Carnitine Deficiency)
Carnitine-Acylcarnitine Translocase (CACT) Deficiency
Carnitine Palmitoyl Transferase I & II (CPT I & II) Deficiency
Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency
Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
Short Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency
Short Chain L-3-Hydroxyacyl-CoA Dehydrogenase (SCHAD) Deficiency
Unclassified FODs
Full transcript