Ignite Creation Date:
2024-10-26 @ 3:40 PM
Last Modification Date:
2024-10-26 @ 3:40 PM
Study NCT ID:
NCT06606223
Status:
NOT_YET_RECRUITING
Last Update Posted:
None
First Post:
2024-09-10
Brief Title:
A Study of Cases with Abnormal Serum Ammonia in Neonate and Children Attending Assiut University Children Hospital
Sponsor:
None
Organization:
None
Study Overview
Official Title:
A Study of Cases of Abnormal Serum Ammonia Attending Assiut University Children Hospital
Status:
NOT_YET_RECRUITING
Status Verified Date:
2024-09
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
No
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
To determine the etiology and clinical presentation of increased serum ammonia in infants and children presented to the Pediatric Genetic unit Assiut University Hospital
-To study the effects of certain precautions on serum ammonia levels
-To study the effects of certain precautions on serum ammonia levels
Detailed Description:
Ammonia is an important source of nitrogen and is required for amino acid synthesis Nitrogenous waste results from the breakdown and catabolism of dietary and bodily proteins respectively In healthy individuals amino acids that are not needed for protein synthesis are metabolized in various chemical pathways with the rest of the nitrogen waste being converted to urea ammonium is excreted in the urine resulting in net acid loss The ammonia level generally remains low lt40 mmolL due to the fact that most ammonia produced in tissue is converted to glutamine Glutamine is also excreted by the kidneys and utilized for energy production by gut cells which convert the nitrogen byproduct into alanine citrulline and ammonia which are transported to the liver via the bloodstream Ammonia enters the urea cycle in hepatocytes or is ultimately converted to glutamine Ammonia is toxic when present in high concentrations Endogenous ammonia intoxication can occur when there is impaired capacity of the body to excrete nitrogenous waste as seen with congenital enzymatic deficiencies Patients with urea cycle defects UCD organic acidemias fatty acid oxidation defects bypass of the major site of detoxification liver such as that seen in cirrhosis can all present with elevations in ammonia Ammonia diffuses through all body membranes including the blood-brain barrier and alters the amino acid pathway ion transporters and neuronal oxide reduction metabolism with deleterious effect on neuron and astrocyte functioning
Hyperammonaemia is defined as levels gt110 µmolL 198 µgdL in the neonatal period including preterm and gt50 µmolL 90 µgdL from that age onwards The predominant clinical signs of acute hyperammonaemia are mostly due to cerebral oedema They include irritability rejection of feeds vomiting or drowsiness in neonates and infants In children adolescents and adults the main clinical signs are associated with differing degrees of acute encephalopathy altered consciousness ataxia seizures and coma Persistent or intermittent hyperammonaemia can produce chronic symptoms such as psychomotor delay or growth retardation Older individuals can exhibit eating disorders or a wide spectrum of neuropsychiatric symptoms In children hyperammonaemia is often considered a metabolic derangement due to inborn errors of metabolism Such as organic acidemia systemic carnitine deficiency Reye syndrome toxins drug effect or liver disease On the other hand if there is normal lactate and no metabolic acidosis associated with the hyperammonemia then UCD dibasic aminoaciduria or transient hyperammonemia of the newborn are more likely The association of elevated liver enzymes with hyperammonemia is most consistent after insult from hepatotoxins Reye syndrome or carnitine deficiency
The severity of the clinical presentation depends on the peak ammonia level but is also influenced by the age of the patient speed of onset or the presence of other underlying conditions In many cases there is a triggering factor such as protein catabolism caused by prolonged fasting fever infections gastrointestinal bleeding dehydration high protein intake anesthesia and surgery or use of specific medications Ammonia level determination needs careful blood extraction and sample processing techniques because its levels easily rise when these requirements are not fulfilled factitious hyperammonemia The blood sample can be venous or arterial but needs to be drawn while the corresponding muscle group is at rest without hypoxia no compression or holding and preferably through a large-caliber route to avoid hemolysis The blood should be kept cold
Hyperammonaemia is defined as levels gt110 µmolL 198 µgdL in the neonatal period including preterm and gt50 µmolL 90 µgdL from that age onwards The predominant clinical signs of acute hyperammonaemia are mostly due to cerebral oedema They include irritability rejection of feeds vomiting or drowsiness in neonates and infants In children adolescents and adults the main clinical signs are associated with differing degrees of acute encephalopathy altered consciousness ataxia seizures and coma Persistent or intermittent hyperammonaemia can produce chronic symptoms such as psychomotor delay or growth retardation Older individuals can exhibit eating disorders or a wide spectrum of neuropsychiatric symptoms In children hyperammonaemia is often considered a metabolic derangement due to inborn errors of metabolism Such as organic acidemia systemic carnitine deficiency Reye syndrome toxins drug effect or liver disease On the other hand if there is normal lactate and no metabolic acidosis associated with the hyperammonemia then UCD dibasic aminoaciduria or transient hyperammonemia of the newborn are more likely The association of elevated liver enzymes with hyperammonemia is most consistent after insult from hepatotoxins Reye syndrome or carnitine deficiency
The severity of the clinical presentation depends on the peak ammonia level but is also influenced by the age of the patient speed of onset or the presence of other underlying conditions In many cases there is a triggering factor such as protein catabolism caused by prolonged fasting fever infections gastrointestinal bleeding dehydration high protein intake anesthesia and surgery or use of specific medications Ammonia level determination needs careful blood extraction and sample processing techniques because its levels easily rise when these requirements are not fulfilled factitious hyperammonemia The blood sample can be venous or arterial but needs to be drawn while the corresponding muscle group is at rest without hypoxia no compression or holding and preferably through a large-caliber route to avoid hemolysis The blood should be kept cold
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None