CARBAMOYL PHOSPHATE STNTHETASE 1 DEFICIENCY

BY

Patricia onuoha. MDII

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.

• 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.

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.

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.

CPS1--- HOW COMMON???

• Carbamoyl phosphate synthetase 1 deficiency • -Very rare even from researchers------1 in

800,000 new born– presentation in Japan.

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.

PATHOPHYSIOLOGYOF 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.

UREA PRODUCTION/SYNTHESIS

MUTATIONAL SHOWCASE OF THE AUTOSOMAL-RECESSIVENESS OF CPS1

•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

OTHER NAMES OF CPS1

• Other names of carbamoyl phosphate synthetase 1 deficiency are:

• Carbamoyl phosphate synthetase 1 DeficiencyDisease.

• Congenital Hyperammonemia Type 1

DIAGNOSIS/MANAGEMENT OF CPS1

• Baby First Test• Routine chemical Laboratory Tests• Genetic Disorder Tests• Immunoflourescent Techniques• Chromatography

• Counselling thus reviewing carefully the patient family history.

• Advise the patient and/or relatives on protein intake increase.

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

QUESTIONS.

• THANK YOU ALL.

QUESTIONS

THANK YOU BYE