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Hyperammonemia -نور الهدى حسين الماس
Hyperammonemia -نور الهدى حسين الماس
Department of Biochemistry
Hyperammonemia
Supervisor by Submitted by
Dr\Shahad Fawzi . نورالهدى حسين الماس
Second stage
Group\D
29\6\2020
Contents
Types of Hyperammonemia
Diagnosis
Treatment
References
*INTRODUCTION
Hyperammonemia (or hyperammonaemia) : is a metabolic disturbance
characterised by an excess of ammonia in the blood. It is adangerous condition
that may lead to encephalopathy and death. It may be primary or
secondary.Ammonia is a substance that contains nitrogen.
It is a product of the catabolism of protein. It is converted to the less
toxic substance urea prior to excretion in urine by the kidneys. The
metabolic pathways that synthesize urea are located first in
the mitochondria and then into the cytosol.
The process is known as the urea cycle, which comprises several
enzymes acting in sequence. The disease is split into two types: primary
hyperammonemia and secondary hyperammonemia. Both are caused by
a group of genetic ailments characterized by metabolic dysfunction
brought about by reduced enzyme activity and consequent rise of
toxicity. They are collectively known as inborn errors of metabolism, a
phrase coined by 19th- and 20th-century British physician Archibald
Garrod.
*Types of Hyperammonemia
1. Primary hyperammonemia: These errors occur in the urea
cycle. An example of its associated disorders is citrullinemia,
which involves the accumulation of ammonia in the blood due
to the deficiency of argininosuccinic acid synthetase.
Figure: The urea cycle. CPS-1 cabamoyl phosphate synthetase 1, OTC ornithine
transcarbamylase, ASS argininosuccinic acid synthetase, ASL argininosuccinic acid lyase,
ARG arginase. Hyperammonemia due to urea cycle disorders: a potentially fatal condition in
the intensive care setting.
*Treatment
The treatment of Hyperammonemia aims at restricting the intake of ammonia as
well as increasing its excretion. Physicians make this possible by prescribing
pharmacologic agents like Sodium benzoate and Intravenous Sodium
Phenylacetate. These are commonly used as adjunctive therapy for curing the
condition in patients suffering from deficiency of Urea Cycle Enzyme.
In hyperammonemia ammonia directly affects the CNS .The role of the
neurologist is to provide a basic status evaluation for later reference during
follow-up care. This evaluation is especially useful in the primary genetic
entities, in which recurrence is a virtual certainty and the risk of additional
nervous system compromise exists.
*MANAGEMENT : People suffering from chronic disorders are at a life-long
risk of suffering from Hyperammonemia episodes. For such patients,
management involves long-time follow up and monitoring of the ammonia
levels. A multidisciplinary approach, involving Genetic, Dietary, Metabolic,
Pediatric and Neurological factors, needs to be followed for this disease.
Specific supportive plans need to be used for dealing with acute episodes.
Therapies used for this disorder need to focus on controlling the symptoms and
avoiding its acute episodes.
*References
Denise R. Ferrier, phD;Lippincott's Illustrated Reviews:
Biochemistr;Sixth Edition, 2014,P 470-473
DM vasudevan,Sreekumari S and Kannan Vaidyanathan; TEXTBOOK
OF BIOCHEMISTRY For Medical Students; Sixth Edition, 2011,P 179-
180
Robert K. Murray, MD, PhD & David A. Bender, PhD & Kathleen M.
Botham, PhD, DSc & Peter J. Kennelly, PhD & Victor W. Rodwell, PhD
& P. Anthony Weil, PhD ; Harper’s Illustrated Biochemistry ,Twenty-
Eighth Edition,2009,P 244-250
Vicente Felipo & Santiago Grisolia; Hepatic Encephalopathy,
Hyperammonemia, And Ammonia toxicity ,1st Edition 1994, P 11-18