carbamoyl phosphate synthetase 1 defficiency in human-------

1. CARBAMOYL PHOSPHATE
STNTHETASE 1 DEFICIENCY
BY
Patricia onuoha. MDII

2. Definition
• Carbamoyl phosphatase synthetase 1
deficiency-Is an inherited disorder that causes
ammonia accumulation in the blood(
Hyperammonemia )-Ammonia which is
formed when protein are broken down in the
body following Urea synthesis.

3. • Very toxic when level of ammonia is too high
affects the brain hence it is very sensitive
especially in the excess increase of ammonia
in the blood.
• In the first days of life of infants with
carbamoyl phosphate synthetase 1 deficiency
typically exhibits the effects of
hyperammonemia.

4. SIGNS AND MANIFESTATION
• -Unusual sleepiness
• -Poorly regulated breathing rate/body
temperature
• -Unwillingness to feed
• Unusual body movement
• Seizures or coma
• Although,in some people with carbamyol
phosphate synthetase 1 deficiency,signs and
symptoms may be less and appear later in life.

5. BELIEVEABLE FACTS
• Affected individuals who survive the newborn
period may experience recurrent of this
symptom if diet is not carefully managed.
• Or if they experience infections or other
stressors
• They may also have delayed development and
intellectual dissabilty.

6. CPS1--- HOW COMMON???
• Carbamoyl phosphate synthetase 1 deficiency
• -Very rare even from researchers------1 in
800,000 new born– presentation in Japan.

7. SYNTHES OF CARBAMOYL PHOSPHATE
SYNTHETASE 1 DEFICIENCY
• This takes place during urea synthesis.
• In this process,excess nitrogen are
incorperated into cyle to be processed.
• Urea is at very low level( deficient ),absent
and urea cycle cannot proceed normally-
hence the condition is called:UREA CYCLE
DISORDER.

9. PATHOPHYSIOLOGY
OF CPS1
• Nitrogen accumulates in blood stream in form of
toxic ammonia instead of being converted to less
toxic urea and excreated.
• As an autosomal recessive pattern means both
parent have both copies in each cell have
already with heavy mutation,which means each
of the parent of the infected individual carry a
copy of the mutated gene,but typically do not
show signs and symptom.

10. UREA PRODUCTION/SYNTHESIS

11. MUTATIONAL SHOWCASE OF THE
AUTOSOMAL-RECESSIVENESS OF CPS1
•Endo F, Matsuura T, Yanagita K, Matsuda I. Clinical manifestations of inborn errors of the

12. OTHER NAMES OF CPS1
• Other names of carbamoyl phosphate
synthetase 1 deficiency are:
• Carbamoyl phosphate synthetase 1
DeficiencyDisease.
• Congenital Hyperammonemia Type 1

13. DIAGNOSIS/MANAGEMENT OF CPS1
• Baby First Test
• Routine chemical Laboratory Tests
• Genetic Disorder Tests
• Immunoflourescent Techniques
• Chromatography

14. • Counselling thus reviewing carefully the
patient family history.
• Advise the patient and/or relatives on
protein intake increase.

15. REFRENCES
• Aoshima T, Kajita M, Sekido Y, Mimura S, Itakura A, Yasuda I, Saheki
T, Watanabe K, Shimokata K, Niwa T. Carbamoyl phosphate
synthetase I deficiency: molecular genetic findings and prenatal
diagnosis. Prenat Diagn. 2001 Aug;21(8):634-7. PubMed citation
Endo F, Matsuura T, Yanagita K, Matsuda I. Clinical manifestations of
inborn errors of the urea cycle and related metabolic disorders
during childhood. J Nutr. 2004 Jun;134(6 Suppl):1605S-1609S;
discussion 1630S-1632S, 1667S-1672S. Review. PubMed citation
Finckh U, Kohlschütter A, Schäfer H, Sperhake K, Colombo JP, Gal A.
Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency
by identification of a missense mutation in CPS1. Hum Mutat.
1998;12(3):206-11. PubMed citation Gene Review: Urea Cycle
Disorders Häberle J, Schmidt E, Pauli S, Rapp B, Christensen E,
Wermuth B, Koch HG. Gene structure of human carbamylphosphate
synthetase 1 and novel mutations in patients with neonatal onset.
Hum Mutat. 2003 Apr;21(4):444. PubMed citation

16. QUESTIONS.

17. • THANK YOU ALL.

18. QUESTIONS

19. THANK YOU BYE