This document discusses metabolic disorders caused by inborn errors of metabolism. It explains that these disorders occur when the body is unable to break down nutrients normally due to defects in enzymes involved in metabolic pathways. This leads to toxic buildup of substrates that can damage tissues if not treated early. Specific disorders discussed include phenylketonuria, maple syrup urine disease, homocystinuria, citrullinemia, and tyrosinemia. The document emphasizes the importance of newborn screening to detect these disorders before symptoms appear in order to start early treatment and prevent negative health outcomes.

3. Metabolic Disorders/ IEM
 Metabolic disorders/IEMs are caused when the body is unable
to break down nutrients, which then accumulate in the body
and becomes toxic.
 When the concentration of toxic build-up increase they cross
the blood-brain barrier and this leads to delayed development,
brain damage and, in some cases, even death.
 Most infants with these disorders show no obvious signs of
these disorders at birth, but the build-up can be rapid enough
for the condition to become irreversible within a few weeks of
birth.

4. Reason behind these Disorders
 These disorders follow an
autosomal recessive
inheritance pattern
 Could skip generations
 Parents are carriers
 Happens when the two parents
carry the gene 1:4 probability
of having an affected child

5. Early detection is very important
 Affected babies are identified quickly before symptoms appear.
 Cases of disease are not missed.
 The number of false-positive results is minimized.
 Early treatment can begin, that prevents the negative and irreversible
health outcomes for affected newborns.
 Most treatments are inexpensive and may involve the addition
of a vitamin to the diet, hormone supplementation, avoidance of
certain foods and chemicals or a dietary change.

6. INBORN ERROR OF MEATBOLISM
DEFINATION :
Rare group of recessive genetic disorders in
which the body can not metabolize food
components normally . These disorders are
usually caused by defects in enzymes involved in
the biochemical pathways that break down food
components .
S P
C
Toxic substrate
accumulation
Activate
different
pathways
Alternative
pathway
Diversion to
second
pathways
Product
deficiency

9. Barriers to Newborn Screening
 Cost of the screening and treatment
 Test cannot be done at birth (birth has to be in a hospital)
 Insufficient sampling due to the lack of proper training and education
 Difficult to reach in different geographic location
 Problems with recall and follow up cases

10. If screening is delayed
It could lead to lifelong complications:
 Mental Retardation
 Motor Impairment
Physical Disability
GA 1 Screened
GA 1 Not Screened
GA 1
Screened

11. Newborn tested 48-72 Hours after
birth
Confirmatory Test
Start Treatment
Positive
Negative
Positive
 The newborn screen has to be done only once in a lifetime
 Speeds diagnosis and saves costs
 Healthy child instead of sick or mentally retarded child.
Negative
Benefits of Newborn Screening for
Metabolic Disorders

12.  Anytime 24 hours AFTER birth (ideally within 48-72 hrs).
 Baby needs to be fed at least 2 - 3 times before the specimen
is taken.
 BEFORE developmental delay or other symptoms of mental
retardation occur (best time is to screen a healthy baby).
Time to do screening

13.  Every Newborn (Routine screening)
 High Risk
 Unexplained deaths of siblings
 Miscarriages & Aborted Fetuses
 Exhibit symptoms of IEMs
 Babies conceived by IVF
 Babies in NICU
 Sick Children
13
Every Newborn needs to be Screened

14. Sample from baby’s Heel
1. Puncture heel 2. Lightly touch
filter paper to
LARGE blood
drop
3. Dry the sample
& send to the
laboratory

15. Tandem Mass Spectrometry (MS/MS)
 Mass Spectrometry means multiple analyte testing
 Using Tandem Mass Spectrometry, multiple analytes are measured
simultaneously
 Quantitatively measures amino acids and acylcarnitines from dried blood
spot specimens
Efficient and Economical
 MS/MS is very precise

16. Expanded Newborn Screening
 ACYLCARNITINE PROFILE (Tandem Mass Spectrometry)
I. Fatty Acid Oxidation Disorders
II. Organic Acid Disorders
 AMINO ACID PROFILE (Tandem Mass Spectrometry)
I. Amino Acid Disorders
 BIOCHEMICAL SCREENING (Enzyme Assay/Enz. immunoassay)
I. Galactosemia
II. Congenital Hypothyroidism
III. Congenital Adrenal Hyperplasia
IV. Biotinidase Deficiency

17. Test
Amino Acidemias :
Phenylketonuria (PKU)
Maple syrup urine disease (MSUD)
Homocystinuria (Cystathionine synthase def.)
Citrullinemia (ASA synthase deficiency )
Tyrosinemia (Type 1)
Argininosuccinic Aciduria (ASA Lyase deficiency)
Organic Acidemias :
Propionic Acidemia (PA)
Methylmalonic Acidemia (MMA)
Isovaleric Acidemia (IVA)
Glutaric Acidemia Type I (GA-I)
3-methylcrotonyl-CoA Carboxylase deficiency (3MCC)
Beta Ketothiolase deficiency (Mitochondrial Acetoacetyl CoA
Thiolase deficiency)
Multiple CoA Carboxylase deficiency (MCD)
Fatty Acid Oxidation Defect :
Medium Chain Acyl CoA Dehydrogenase Deficiency (MCAD)
Very Long Chain Acyl CoA Dehydrogenase Deficiency (VLCAD)
Long Chain Hydroxy Acyl Dehydrogenase (LCHAD)
Trifunctional Protein Deficiency (TFP)
3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency (3HMG)
Galactosemia
Biotinidase Deficiency
Endocrine Disorders :
Congenital Hypothyrodism

19. Amino Acid (AA) Disorders
• Most common AA disorder—PKU—is part of the
current test panel
• Expansion added additional 6 AA disorders
• All are recessive genetic disorders so risk of recurrence
is 1:4 with each pregnancy
• Symptoms and treatments vary by disorder

20. Phenylketonuria (PKU)
• Caused by a lack of the enzyme Phenylalanine
Hydroxylase . If not treated, this disease causes
irreversible mental retardation from an early stage as
a result of a buidup of phenylalanine in the blood.
Prevalence within the Arab world 1:2,500.
•‫نمص‬‫أنزٌم‬phenylalanine Hydroxylase‫ٌسبب‬‫هذا‬‫المرض‬
‫تخلؾ‬ً‫عمل‬‫ؼٌر‬‫لابل‬‫للشفاء‬‫اذا‬‫لم‬‫ٌتم‬‫عالجه‬‫خالل‬‫المراحل‬‫االولى‬
‫من‬‫عمر‬‫الطفل‬,‫وهذا‬‫نتٌجة‬‫تراكم‬phenylalanine‫الدم‬,‫نسبة‬
‫انتشار‬‫المرض‬ً‫ف‬‫العالم‬ً‫العرب‬1:2,500.

23. Maple Syrup Urine Disease (MSUD)
• Caused by a lack of the Branched –chain Alpha-Keto
Acid Dehydrogenase complex (BCKDH), which in turn
leads to a buildup of Leucine,Isoleucine and Valine in
the blood. If untreated ,the disorder causes
vomiting,dehydration,seizures and brain damage .
The Classic Severe MSUD form of the disease is fatal .
Prevalence is roughly 1:80,000 .
•‫سببه‬‫نمص‬‫أنزٌم‬Branched –chain Alpha-Keto Acid
Dehydrogenase complex (BCKDH)‫الذي‬‫ٌتسبب‬ً‫ف‬‫تراكم‬
‫االحماض‬‫االمٌنٌة‬Leucine,Isoleucine and Valineً‫ف‬‫الدم‬.
‫ل‬‫ٌعالج‬‫هذا‬‫االختالل‬‫ٌسبب‬‫تمٌؤ‬‫وجفاؾ‬‫وحركات‬‫ال‬‫ارادٌة‬
‫بالعضالت‬‫و‬‫تلؾ‬ً‫ف‬‫الدماغ‬.‫أن‬‫مرض‬MSUD‫بشكله‬ً‫الكالسٌك‬
‫الحاد‬‫ٌؤدي‬ً‫ال‬‫الوفاة‬.‫نسبة‬‫انتشاره‬‫تمرٌبا‬1:80,000

26. Homocysteinuria
• Caused by a lack of the enzyme Cystathionine B-
Synthase that leads to buildup of Methionine since
Homocysteine is not being converted into Cysteine .
Methionine buildup leads to connective tissue,
muscle ,CNS and cardiovascular damage . Prevalence
about 1:3,000
•‫سببه‬‫نمص‬‫انزٌم‬Cystathionine B-Synthase‫الذي‬‫ٌؤدي‬‫الى‬
‫تراكم‬Methionine‫بسبب‬‫عدم‬‫تحول‬Homocysteineً‫ال‬
Cysteine.‫تراكم‬Methionine‫ٌؤدي‬ً‫ال‬‫تلؾ‬‫النسٌج‬‫الضام‬
‫والعضالت‬‫والجهاز‬ً‫العصب‬‫المركزي‬‫والملب‬‫واالوعٌة‬‫الدموي‬.
‫وتصل‬‫نسبة‬‫انتشار‬‫هذا‬‫المرض‬ً‫ال‬1:3000.

28. Citrullinemia
(Argininosuccinic Synthetase Deficiency )
• There are two types of this disorder, Citrullinemia Type I is caused by a
lack of the enzyme Argininosuccic synthetase, which converts citrulline
and aspartate into argininosuccinate, and is the third step in the urea
cycle. Citrullinemia Type II is caused by a defect in Citrin, which is
responsible for the transport of molecules across the mitochondrial
membrane. In its absence, the urea cycle fails to function properly.
Symptoms include vomiting, loss of consciousness, seizures, failure to
thrive as a result of the buildup of ammonia within the blood, abnormal
behavior and confusion. Prevalence of Type I is 1:57,000. Prevalence of
Type II is 1:250,000.
•
•‫المرض‬ ‫هذا‬ ‫من‬ ‫نوعان‬ ‫ٌوجد‬: Citrullinemia Type I‫أنزٌم‬ ‫نمص‬ ‫سببه‬Argininosuccinic
Synthetase‫ٌحول‬ ‫الذي‬Citrulline‫و‬Aspartate‫إلى‬Argininosuccinate‫هو‬ ,
‫الٌورٌا‬ ‫دورة‬ ً‫ف‬ ‫الثالثة‬ ‫الخطوة‬Citrullinemia Type IIً‫ف‬ ‫خلل‬ ‫سببه‬ ,Citrin‫عن‬ ‫المسؤول‬
‫عدم‬ ً‫ف‬ ‫صحٌح‬ ‫بشكل‬ ‫تعمل‬ ‫ال‬ ‫الٌورٌا‬ ‫دورة‬ ‫أن‬ ‫حٌث‬ ,‫الماٌتوكوندرٌا‬ ‫ؼشاء‬ ‫عبر‬ ‫الجزٌئات‬ ‫نمل‬
‫وجوده‬.ً‫ف‬ ‫واضطراب‬ ‫العضالت‬ ً‫ف‬ ‫إرادٌة‬ ‫ال‬ ‫وحركات‬ ً‫الوع‬ ‫وفمدان‬ ‫تمٌؤ‬ ‫األعراض‬ ‫تتضمن‬
‫األول‬ ‫النوع‬ ‫انتشار‬ ‫نسبة‬ ,‫واالرتبان‬ ً‫طبٌع‬ ‫الؽٌر‬ ‫والسلون‬ ‫الدم‬ ً‫ف‬ ‫األمونٌا‬ ‫لتراكم‬ ‫نتٌجة‬ ‫النمو‬
1:57,000
•ً‫الثان‬ ‫النوع‬ ‫انتشار‬ ‫ونسبة‬1:250,000 .

31. Tyrosinemia Type I
• Sometimes referred to as Richner-Hanhart Syndrome,
this disorder is caused by a lack of the enzyme
Tyrosine Aminotransferase. It is the first step in the
metabolism of tyrosine. Symptoms range from death
within 12 months if not treated to impaired muscle
movement a later stage in life. Prevalence worldwide
stands at around 1:250,000.
•‫سببه‬‫نمص‬‫أنزٌم‬Fumarylacetoacetate Hydrolase ,‫هو‬
‫الخطوة‬‫األخٌرة‬ً‫ف‬‫العملٌة‬‫األٌضٌة‬‫ل‬Tyrosine‫تتراوح‬
‫األعراض‬‫ما‬‫بٌن‬‫الوفاة‬)‫خالل‬‫ال‬12‫شهرا‬‫إذا‬‫لم‬‫ٌتم‬‫عالجه‬(‫إلى‬
‫ضعؾ‬ً‫ف‬‫حركة‬‫العضالت‬ً‫ف‬‫ولت‬‫الحك‬‫من‬‫الحٌاة‬.‫ر‬ّ‫د‬‫م‬ُ‫ت‬‫نسبة‬
‫حدوث‬‫هذا‬‫المرض‬‫عالمٌا‬‫ب‬1:100,000

34. Fatty Acid Oxidation Disorders (FAODS)
 Most common FA
disorder—MCADD—is part
of the current test panel
 Expansion added eleven
FAO disorders
 Most are autosomal
recessive disorders so risk
of recurrence is 1:4 with
each pregnancy

35. Symptoms of Fatty Acid Oxidation
Disorders
– Hypoketotic
hypoglycemia
– Muscle weakness
– Seizures
– Sometimes
cardiomyopathy

36. Treatment of most Fatty Acid Oxidation
Disorders– Avoid fasting
– Immediate medical attention when unable to eat
usual diet
– Control type/amount of fat in diet depending upon
the specific diagnosis
– L-Carnitine if indicated
– Cornstarch tube feeding at night if indicated

37. Argininosuccinic Aciduria
• Caused by a lack of the enzyme Argininosuccinate
Lyase which in turn prevents the conversion of
argininosuccinate into arginine. Symptoms of the
disorder include vomiting, nausea, seizures, coma and
damage to the nervous system. Milder forms of the
disease only present symptoms during the onset of a
secondary disease. Prevalence is roughly 1:70,000.
•‫سببه‬‫نمص‬‫أنزٌم‬Arginosuccinate Lyase‫الذي‬‫ٌتسبب‬ً‫ف‬‫عدم‬
‫تحول‬Argininosuccinate‫إلى‬.Arginine‫تتضمن‬‫أعراض‬‫هذا‬
‫اإلختالل‬‫تمٌؤ‬‫وؼثٌان‬‫وحركات‬‫ال‬‫إرادٌة‬ً‫ف‬‫العضالت‬‫وؼٌبوبة‬‫وتلؾ‬
ً‫ف‬‫الجهاز‬,ً‫العصب‬‫وال‬‫تظهر‬‫األعراض‬ً‫ف‬‫الشكل‬‫المتوسط‬‫لهذا‬
‫المرض‬‫إال‬‫إذا‬‫تعرض‬‫المصاب‬‫ألي‬‫مرض‬‫آخر‬.‫أما‬‫نسبة‬‫انتشاره‬‫فتبلػ‬
ً‫حوال‬1:70,000 .

39. 3-Hydroxy-3-Methylglutaryl-CoA
Lyase Deficiency (3HMG)
• Caused by a lack of the enzyme 3-Hydroxy-3-
Methylglutaryl-CoA Lyase which plays a role in
the breakdown of the amin acid leucine .
symptoms include vomiting , dehydration ,
lethargy , convulsion and coma . It is a rare
disorder.
•‫سببه‬‫نمص‬‫أنزٌم‬3-Hydroxy-3-Methylglutaryl-CoA
Lyase‫الذي‬‫ٌلعب‬‫دورا‬‫رئٌسٌا‬ً‫ف‬‫تكسٌر‬‫الحمض‬ً‫االمٌن‬
leucine‫تتضمن‬‫األعراض‬‫تمٌؤا‬‫و‬‫جفافا‬‫و‬‫سباتا‬‫وتشنجات‬‫و‬
‫ؼٌبوبة‬‫و‬‫هذا‬‫االختالل‬‫نادر‬

40. Trifunctional Protein Deficiency
• As the name suggests , it is a complex formed by three
enzymes coded for by two genes responsible for the
breakdown of fatty acids within the mitochondria. A
mutation in either gene causes trifunctional protein
deficiency . Symptoms include lack of energy , low
blood sugar , heart problems , breathing difficulties
and sudden death . It ia arare disorder
•‫كما‬ً‫ٌوح‬‫االسم‬‫خو‬‫مركب‬‫ٌتكون‬‫من‬‫ثالثة‬‫أنزٌمات‬‫مشفرة‬‫عن‬‫طرٌك‬
‫اثنٌن‬‫من‬‫الجٌنات‬‫المسؤولة‬‫عن‬‫تكسٌر‬‫االحماض‬‫الدهنٌة‬ً‫ف‬
‫الماٌتوكوندرٌا‬.‫ط‬ً‫ف‬‫احد‬‫هذة‬‫الجٌنات‬‫ٌؤدي‬ً‫ال‬‫نمص‬
trifunctional protein‫حٌث‬‫تتضمن‬‫االعراض‬‫نمصا‬ً‫ف‬‫الطالة‬‫و‬
‫انخفاض‬‫نسبة‬‫السكر‬ً‫ف‬‫الدم‬‫و‬‫مشاكل‬ً‫ف‬‫الملب‬‫و‬‫صعوبة‬ً‫ف‬‫التنفس‬‫و‬
‫موتا‬‫مفاجئا‬‫و‬‫ٌعتب‬‫هذا‬‫االختالل‬‫نادرا‬

42. Very Long Chain Acyl-CoA
Dehydrogenase Deficiency (VLCADD)
• Caused by a lack of the enzyme Very Long Chain Acyl-CoA
Dehydrogenase which is responsible for the breakdown of
very long chain fatty acids within the mitochondria for
energy production. Symptoms include a lack of energy , low
blood sugar, heart problems,breathing difficulties , liver
problems and sudden death . it is a rare disorder .
•‫سببه‬‫نمص‬‫انزٌم‬Very Long Chain Acyl-CoA Dehydrogenase
‫المسؤول‬‫عن‬‫تكسٌر‬‫االحماض‬‫الدهنٌة‬‫ذات‬‫السلسلة‬‫الطوٌلة‬‫جدا‬‫داخل‬
‫المٌتوكوندرٌا‬,‫وذلن‬‫إلنتاج‬‫الطالة‬,‫تتضمن‬‫االعراض‬‫نمصا‬ً‫ف‬‫الطالة‬‫و‬
‫انخفاض‬‫نسبة‬‫السكر‬ً‫ف‬‫الدم‬‫و‬‫مشاكل‬ً‫ف‬‫الملب‬‫وصعوبة‬ً‫ف‬‫التنفس‬‫و‬
‫مشاكل‬ً‫ف‬‫الكبد‬‫و‬‫موتا‬‫مفاجئا‬,‫و‬‫ٌعتبر‬‫هذا‬‫االختالل‬‫نادر‬.

44. Long Chain 3-Hydroxy Acyl-CoA
Dehydrogenase Deficiency (LCHADD)
• Caused by a lack of the enzyme Long Chain 3-Hydroxy
Acyl-CoA Dehydrogenase which is responsible for the
breakdown of long chain fatty acids within the
mitochondria for energy production . Symptoms
include a lack of energy , low blood sugar , heart
problems, breathing difficulties , liver problems and
sudden death . It is a rare disorder .
•‫سببه‬‫نمص‬‫أنزٌم‬Long Chain 3-Hydroxy Acyl-CoA
Dehydrogenase‫المسؤول‬‫عن‬‫تكسٌر‬‫االحماض‬‫الدهنٌة‬‫ذات‬
‫السلسلة‬‫الطوٌلة‬‫جدا‬‫داخل‬‫الماٌتوكوندرٌا‬,‫وذلن‬‫إلنتاج‬‫الطالة‬,
‫تتضمن‬‫االعراض‬‫نمصا‬ً‫ف‬‫الطالة‬‫و‬‫انخفاض‬‫نسبة‬‫السكر‬ً‫ف‬‫الدم‬‫و‬
‫مشاكل‬ً‫ف‬‫الملب‬‫و‬‫صعوبة‬ً‫ف‬‫التنفس‬‫ومشاكل‬ً‫ف‬‫الكبد‬‫و‬‫موتا‬‫مفاجئا‬
‫و‬‫ٌعتبر‬‫هذا‬‫االختالل‬‫نادرا‬.

45. Medium Chain Acyl-CoA
Dehydrogenase Deficiency (MCADD)
• Caused by lack of the enzyme Medium Chain Acyl-CoA
Dehydrogenase which is responsible for the breakdown of
medium chain fatty acids within the mitochondria for
energy production , symptoms include a lack of energy ,
low blood sugar , heart problems , breathing difficulties ,
liver problems and sudden death . prevalence is roughly
1:15,000
•‫سببه‬‫نمص‬‫انزٌم‬Medium Chain Acyl-CoA Dehydrogenase
‫المسؤول‬‫عن‬‫تكسٌر‬‫االحماض‬‫الدهنٌة‬‫ذات‬‫السلسلة‬‫الطوٌلة‬‫جدا‬‫داخل‬
‫الماٌتوكوندرٌا‬‫و‬‫ذلن‬‫إلنتاج‬‫الطالة‬,‫تتضمن‬‫األعراض‬‫نمصا‬ً‫ف‬‫الطالة‬
‫وانخفاض‬‫نسبة‬‫السكر‬ً‫ف‬‫الدم‬‫و‬‫مشاكل‬ً‫ف‬‫الملب‬‫و‬‫صعوبة‬ً‫ف‬‫التنفس‬
‫ومشاكل‬ً‫ف‬‫الكبد‬‫و‬‫موتا‬‫مفاجئا‬‫و‬‫تبلػ‬‫نسبة‬‫انتشارة‬‫تمرٌبا‬1:15,000

48. Organic Acid (OA) Disorders
• Expansion added the detection of 16 organic acid
disorders
• Most are autosomal recessive disorders so risk of
recurrence is 1:4 with each pregnancy
• A few sub-types are X-linked so only males are
affected, but females may show milder symptoms

49. Symptoms of most Organic Acid Disorders
– Feeding problems
(feed intolerance)
– Seizures
– Metabolic acidosis
– Lethargy

50. Treatment of most Organic Acid Disorders
– Avoid fasting
– Immediate medical attention when unable to eat
usual diet
– Control type/amount of protein in diet depending
upon the specific diagnosis
– Vitamin B12 if indicated

51. Isovaleric Aciduria
• Caused by a lack of the enzyme Isovaleric Acid-CoA
Dehydrogenase that plays a role in the breakdown of
leucine , an essential amino acid . Symptoms include
poor feeding , vomiting , seizures , lack of energy and
comas . A distinctive odour of sweaty feet is also
common .Prevalence is 1:250,000
•‫سببه‬‫نمص‬‫انزٌم‬Isovaleric Acid-CoA Dehydrogenase‫الذي‬
‫ٌلعب‬‫دورا‬ً‫ف‬‫عملٌة‬‫تحطٌم‬‫اللٌوسٌن‬‫و‬‫هو‬‫من‬‫االحماض‬‫االمٌنٌة‬
‫الرئٌسٌة‬,‫تتضمن‬‫االعراض‬‫سوء‬‫تؽذٌة‬‫و‬‫تمٌؤ‬‫و‬‫حركات‬‫ال‬‫إرادٌة‬
ً‫ف‬‫العضالت‬‫و‬‫نمصا‬ً‫ف‬‫الطالة‬‫و‬‫ؼٌبوبة‬‫و‬‫رائحة‬‫عرق‬‫ممٌزة‬
‫للمدمٌن‬‫شائعة‬‫أٌضا‬.‫ن‬‫انتشار‬‫هذا‬‫االختالل‬1:250,000

53. Propionic Aciduria
• Caused by a lack of the enzyme Propionyl-CoA
Carboxylase , which is responsible for the breakdown
of a number of essential amino acids . Symptoms
include seizures , vomiting and dehydration . The
disorder can quickly become life threatening .
Prevalence about 1:250,000 .
•‫سببه‬‫نمص‬‫انزٌم‬Propionyl-CoA Carboxylase‫المسؤول‬‫عن‬
‫تحطٌم‬‫عدد‬‫من‬‫االحماض‬‫األمٌنٌة‬‫الرئٌسٌة‬‫تتضمن‬‫االعراض‬
‫حركاتا‬‫ال‬‫إرادٌة‬ً‫ف‬‫العضالت‬‫و‬‫تمٌؤ‬‫و‬‫جفافا‬‫و‬‫ٌهدد‬‫هذا‬‫االختالل‬
‫الحٌاة‬‫بطرٌمة‬‫سرٌعة‬,‫نسبة‬‫انتشارة‬‫عالٌة‬1:250.000

55. Methylmalonic Aciduria
• Caused by a lack of the enzyme Methylmalonyl-
CoA Mutase or as a result of Vitamin B12
metabolism deficiency . Symptoms include brain
damage and hyperammonemia . prevalence is
1:50,000
•‫سببه‬‫نمص‬‫ان‬Methylmalonyl-CoA Mutase‫أو‬‫كنتٌجة‬
‫لنمص‬‫االٌض‬ً‫ف‬‫فٌتامٌن‬‫ب‬12‫تتضمن‬‫االعراض‬‫تلفا‬ً‫ف‬
‫الدماغ‬‫و‬‫زٌادة‬ً‫ف‬‫االمونٌا‬‫و‬‫تبلػ‬‫نسبة‬‫انتشارة‬1:50,000

57. Glutaric Aciduria Type I
• Caused by a lack of the enzyme Glutaryl-CoA
Carboxylase , which is responsible for the
breakdown of number of essential amino acids .
baby born with this disorder exhibit a large head ,
spasms , rigidity and bleeding from the brain .
Prevalence is 1:30,000
•‫سببه‬‫نمص‬‫انزٌم‬Glutaryl-CoA Carboxylase‫المسؤول‬‫عن‬
‫تحطٌم‬‫عدد‬‫من‬‫االحماض‬‫االمٌنٌة‬‫الرئٌسٌة‬,‫تتضمن‬‫االعراض‬
‫والدة‬‫طفل‬‫برأس‬‫كبٌر‬‫و‬‫تشنجات‬‫و‬‫صالبة‬‫و‬‫نزٌؾ‬ً‫ف‬‫الدماغ‬
‫و‬‫تبلػ‬‫نسبة‬‫انتشارة‬1:30000

59. B-ketothiolase Deficiency
• Caused by a lack of the enzyme B-Ketothiolase
which plays an essential role in the breakdown of
the amino acid isoleucine .Symptoms include
vomiting , dehydration , trouble breathing ,
extreme tiredness , convulsion and comas .It is
arare disorder .
•‫سببه‬‫نمص‬‫انزٌم‬B-Ketothiolase‫الذي‬‫ٌلعب‬‫دورا‬‫رئٌسٌا‬ً‫ف‬
‫تكسٌر‬‫الحمض‬ً‫األمٌن‬‫اٌزلٌوسٌن‬‫و‬‫تتضمن‬‫االعراض‬‫تمٌؤ‬‫و‬
‫جفافؾ‬‫و‬‫صعوبة‬ً‫ف‬‫التنفس‬‫و‬‫تعبا‬‫شدٌدا‬‫و‬‫تشنجات‬‫و‬
‫ؼٌبوبة‬‫و‬‫هذا‬‫االختالل‬‫نادر‬.

61. 3-methylcrotonyl-CoA Carboxylase
Deficiency
• Caused by a lack of the enzyme 3Methylcrotonyl-
CoA Carboxylase which plays an essential role in
the breakdown of amino acid leucine .Symptoms
include lethargy ,delayed development and coma
. prevalence is 1:50,000.
•‫سببه‬‫نمص‬‫انزٌم‬3Methylcrotonyl-CoA Carboxylase
‫الذي‬‫ٌلعب‬‫دورا‬‫رئٌسٌا‬ً‫ف‬‫تكسٌر‬‫الحمض‬ً‫االمٌن‬‫لٌوسٌن‬‫و‬
‫تتضمن‬‫االعراض‬‫السبات‬‫و‬‫تاخر‬ً‫ف‬‫النمو‬‫و‬‫ؼٌبوبة‬‫و‬‫تبلػ‬
‫نسبة‬‫انتشارة‬1:50,000

63. Multiple –CoA Carboxylase Deficiency
• Caused by a lack of any four different CoA
Carboxylase enzyme . Multiple CoA Carboxylase
Deficency can be associated with biotinadse
deficiency . Symptoms include lethargy , poor
feeding , seizures and coma .I is arare disorder .
•‫سببه‬‫نمص‬‫واحد‬‫من‬‫أربعة‬‫انزٌمات‬CoA Carboxylase‫هذا‬
‫االختالل‬‫ٌترافك‬‫مع‬‫نمص‬biotinades‫و‬‫تتضمن‬‫االعراض‬
‫السبات‬‫و‬‫سوء‬‫تؽذٌة‬‫وحركات‬‫ال‬‫ارادٌة‬ً‫ف‬‫العضالت‬‫و‬‫ؼٌبوبة‬
‫و‬‫هذا‬‫االختالل‬‫نادر‬

65. Congenital Adrenal Hyperplasia (17-
Hydroxyprogesterone )
• Caused by a lack of the enzyme 21-Hydroxylase , which
plays a vital role in the synthesis of cortisol and
aldosterone . Symptoms include early puberty , stunted
growth and wrong gender assignment and in its most
severe form can lead to death . Prevalence world wide
1:25,000
•‫تضخم‬‫الؽدة‬‫الكظرٌة‬ً‫الخلم‬‫بسبب‬‫نمص‬‫انزٌم‬21-Hydroxylase
‫الذي‬‫ٌلعب‬‫دورا‬‫حٌوٌا‬ً‫ف‬‫تصنٌع‬‫الكورتٌزول‬‫و‬‫االلدوستٌرون‬‫وٌتمضن‬
‫االعراض‬‫البلوغ‬‫المبكر‬‫و‬‫تمزم‬‫و‬‫عدم‬‫و‬‫تمٌٌز‬‫جنس‬‫و‬‫الطفل‬‫و‬‫ٌؤدي‬
ً‫ف‬‫أشد‬‫حاالتة‬ً‫إل‬‫الوفاة‬‫تبلػ‬‫نسبة‬‫انتشاره‬1:25,000

68. Classic Galactosemia
• Caused by a lack of the enzyme Galactose-1-
phosphouridyl transferase which prevent the
body from properly breaking down galactose
into glucose . Symptoms include liver , kidney
and brain damage . prevelance is 1:50,000
•‫انزٌم‬ ‫نمص‬ ‫سببه‬Galactose-1-phosphouridyl
transferase‫تكسٌر‬ ‫على‬ ‫الجسم‬ ‫لدرة‬ ‫عدم‬ ً‫ال‬ ‫نمصة‬ ‫ٌؤدي‬
‫الكبد‬ ‫تدمٌر‬ ‫األعراض‬ ‫وتتضمن‬ ‫جلوكوز‬ ً‫ال‬ ‫الجالكتوز‬
‫انتشارة‬ ‫نسبة‬ ‫تبلػ‬ ‫و‬ ‫والدماغ‬ ً‫والكل‬1:50,000

73. Congenital Hypothyroidism (TSH)
• Caused primarily by an abnormal thyroid gland or a
mutation in the receptors or hormones produced to
help thyroid gland function . Symptoms include poor
growth and development and mental retardation if
untreated . prevalence is 1:4,000
•‫نشاط‬‫الؽدة‬‫الدرلٌة‬ً‫الخلم‬–‫سببه‬ً‫الرئٌس‬‫ؼدة‬‫درلٌة‬‫ؼٌر‬‫طبٌعٌة‬‫أو‬
‫طفرة‬ً‫ف‬‫مستمبالت‬‫هرمونات‬‫الؽدة‬‫أو‬ً‫ف‬‫انتاج‬‫الهرومونات‬‫المحفزة‬
‫للؽدة‬‫الدرلٌة‬‫و‬‫تتضمن‬‫االعراض‬‫اعالة‬‫و‬‫تاخر‬ً‫ف‬‫النمو‬‫و‬‫تخلفا‬
‫عملٌا‬‫واذا‬‫لم‬‫ٌعالج‬‫بشكل‬‫مبكر‬‫و‬‫تبلػ‬‫نسبة‬‫انتشارة‬1:4,000

76. If diagnosed
treatment is easy
just thyroid hormone
for life

78. Biotindase deficiency
• Biotinidase deficiency is unable to recycle the vitamin
biotin., can cause seizures, weak muscle tone (hypotonia),
breathing problems, hearing and vision loss, problems with
movement and balance (ataxia), skin rashes, hair loss
(alopecia), and a fungal infection called candidiasis.
Affected children also have delayed development. Lifelong
treatment can prevent these complications from occurring
or improve them if they have already developed.
•‫سببه‬‫نمص‬‫انزٌم‬‫البٌوتنٌدز‬‫فٌفمد‬‫المدرة‬‫على‬‫التعامل‬‫مع‬‫فٌتامٌن‬‫البٌوتٌن‬
‫ممٌتسبب‬ً‫ف‬‫تشنجات‬‫و‬‫ضعؾ‬ً‫ف‬‫العضالت‬‫و‬‫صعوبة‬ً‫ف‬‫التنفس‬‫و‬‫فمدان‬
‫السمع‬‫والبصر‬‫و‬‫صعوبة‬ً‫المش‬‫و‬‫حساسٌة‬‫جلدٌة‬‫و‬‫فمدان‬‫للشعر‬‫و‬‫االصابة‬
‫بالفطرٌات‬‫و‬‫تاخر‬‫النمو‬‫و‬‫ٌحتاج‬‫الطفل‬‫لٌعٌش‬‫بشكل‬ً‫طبٌع‬ً‫ال‬‫العالج‬‫مدى‬
‫الحٌاة‬

80. Conclusion
All babies have equal right to live healthy lives
&
We need to create the platform for them