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Transient Hyperammonemia of the Newborn


Presentation

  • THAN is the disorder that is much more frequently present than diagnosed.[ncbi.nlm.nih.gov]
  • A summary of evidence is presented supporting the hypothesis that this syndrome is a vascular complication caused by shunting of blood away from the portal circulation of the liver into the systemic circulation with subsequent lack of ammonia removal.[ncbi.nlm.nih.gov]
  • The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Two pitfalls are present for the student, however. First, the abnormalities are superimposed on a changing, developing brain, not a rather static, mature organ.[books.google.de]
Pain
  • Stay current with coverage of hot topics including MRSA, neonatal pain, cardiovascular fetal interventions, care of the late preterm infant, and the developing intestinal microbiome.[books.google.de]
  • […] on endovascular neuroradiology, parkinsonian syndromes, Lewy body dementias, frontotemporal dementia, vanishing white matter, vasculitis, normal pressure hydrocephalus, neuromyelitis optica, Kennedy disease, spinal muscular atrophy, complex regional pain[books.google.de]
  • HSM, bone pain, easy bruises and lyric lesions on X-ray Dx? Normal until 9mo then lethargy, hypotonia, cherry red on retina and microcephalic Blind, seizures then death by 5 Tay Sachs Ashkenazi Jews!! No HSM Dx? Cherry red spot, CNS changed and HSM.[brainscape.com]
  • An 8-year-old girl with abdominal pain and mental status changes. Pediatr Emerg Care. 2015 Jun;31(6):459-62. El-Hattab AW. Inborn errors of metabolism. Clin Perinatol. 2015 Jun;42(2):413-39, x. Author Donna M.[pediatriceducation.org]
  • FACP, FAHA, FRCP, FRCPC, FRS, LRCP, MRCP, MRCS is a member of the following medical societies: American College of International Physicians, American Heart Association, American Stroke Association, American Academy of Neurology, American Academy of Pain[emedicine.medscape.com]
Respiratory Distress
  • Therefore, it is necessary to estimate the serum ammonia level in every preterm newborn infant, who develops the signs of respiratory distress syndrome in the first hours of life, along with the symptoms of hyperammonemia (lethargy, hypotonia, seizures[ncbi.nlm.nih.gov]
  • Respiratory distress occurred in all but one patient with THAN before 24 hours; in contrast, only 62% of infants with UCED had respiratory symptoms, and none before 30 hours.[ncbi.nlm.nih.gov]
  • Severe Transient Hyperammonemia can also cause respiratory distress syndrome. Chest x-rays may resemble hyaline membrane disease.[en.wikipedia.org]
Cyanosis
  • Observable CNS depression, comatose, metabolic acidosis, feeding difficulties, cyanosis, abnormal EEG, increased intraventricular hemorrhage, hypotonia, and irratibility are common symptoms of THAN.[en.wikipedia.org]
Vascular Disease
  • Liver failure can result from diverse factors such as, Acetaminophen toxicity Drug reactions Viral hepatitis (A or B) Idiopathic causes Viral infections Autoimmune diseases Vascular diseases Pregnancy-related conditions (such as Eclampsia) Toxins (such[primehealthchannel.com]
Hydrops Fetalis
  • Stay at the forefront of your field thanks to new and completely revised chapters covering topics such as: Principles and Practice l Immune and Non-immune Hydrops Fetalis l Amniotic Fluid Volume l Enhancing Safe Prescribing in the Neonatal Intensive Care[books.google.de]
Muscular Atrophy
  • atrophy, complex regional pain syndrome, disorders of DNA translation, the immune restoration inflammatory syndrome (IRIS), and Hashimoto encephalopathy.[books.google.de]
Quadriplegia
  • Among the 13 infants who were alive at the time of this survey, 6 had neurological sequelae, including mental retardation, spastic quadriplegia and epilepsy.[ncbi.nlm.nih.gov]
  • •progressive spastic diplegia • quadriplegia, • intellectual impairment, •recurrent vomiting, •delayed growth, • seizures. 29. hyperinsulinism hyperammonemia syndrome (glutamatedehydrogenase 1) PATIENT: Since the neonatal period, a white girl had been[slideshare.net]
Neonatal Seizures
  • Severe Transient Hyperammonemia causes neurological problems as ammonia levels in the brain are too high, which can cause infant hyptotonia as well as neonatal seizures. Severe Transient Hyperammonemia can also cause respiratory distress syndrome.[en.wikipedia.org]
Spastic Quadriplegia
  • Among the 13 infants who were alive at the time of this survey, 6 had neurological sequelae, including mental retardation, spastic quadriplegia and epilepsy.[ncbi.nlm.nih.gov]

Workup

  • In addition, the death of his sibling from unknown causes suggests an indication for an IEM workup.[clinchem.aaccjnls.org]
  • […] disorders [1] Heterozygote identification in ornithine transcarbamoylase deficient pedigrees Imaging studies The following imaging studies may be used in evaluating patients with hyperammonemia: Neuroimaging: CT or MRI of the brain MR spectroscopy See Workup[emedicine.medscape.com]
Polyps
  • Review the latest developments in the field and get up-to-date clinical information on hot topics like polyps, capsule endoscopy, and pancreatic treatments.[books.google.de]

Treatment

  • Dialysis proved the most effective treatment.[ncbi.nlm.nih.gov]
  • Dialysis proved the most effective treatment. Additional information Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.[doi.org]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout.[books.google.de]
  • Review the latest developments in the field and get up-to-date clinical information on hot topics like polyps, capsule endoscopy, and pancreatic treatments.[books.google.de]

Prognosis

  • The multivariate analysis revealed that the Apgar score at 1 minute, peak plasma ammonia concentration, birth weight and sex were significant factors affecting the prognosis of life.[ncbi.nlm.nih.gov]
  • The multivariate analysis revealed that the Apgar score at 1 minute, peak plasma ammonia concentration, birth weight and sex were significant factors affecting the prognosis of life (5).[ispub.com]
  • Hyperammonemia Prognosis If left untreated, this condition may give rise to an acute brain disorder known as Encephalopathy. The condition involves 100% mortality in the absence of cure.[primehealthchannel.com]
  • Prenatal diagnosis is possible by molecular testsing Repeatedly reinforcing the parents in their abilities to perceive early signs of hyperammonemia and to take immediate steps to obtain medical care can be life saving.(5) Prognosis: Prognosis for older[path.upmc.edu]
  • Prognosis Acute recovery: Outcomes are less severe if ammonia concentration remains Long-term complications : Poor growth, developmental delay, mental retardation, ADHD, seizure disorder, CP.[pedclerk.bsd.uchicago.edu]

Etiology

  • In 183 short chapters, the book provides the essentials clinicians need on symptoms/signs, diagnostic tests, and neurologic disorders of all etiologies. For this edition, Timothy A.[books.google.de]
  • Although the etiology is unconfirmed, transient hyperammonemia is known to be caused by increased levels of ammonia in the blood stream, as well as a failure of the urea cycle to convert enough of the ammonia into urea.[en.wikipedia.org]
  • Transient hyperammonemia of the newborn Since the etiology is unconfirmed, diagnosis is generally accomplished when there is hyperammonemia present within 24–36 hours of birth and urea cycle defects can be excluded.[wordsimilarity.com]
  • Etiology of Urea Cycle Defects Urea cycle defects result from a deficiency or total absence of the activity of any of the enzymes along the pathway, particularly carbamoyl phosphate synthetase I (CPSI), ornithine transcarbamylase (OTC), arginosuccinate[pedclerk.bsd.uchicago.edu]
  • […] dialysis does not remove ammonia quickly enough to minimize brain injury. 1, 7, 8 While preparing for hemodialysis or extracorporeal membrane oxygenation, ammonia scavenging therapy should be initiated, even prior to the diagnosis of a specific metabolic etiology[nature.com]

Epidemiology

  • Inborn errors of metabolism: an update on epidemiology and on neonatal-onset hyperammonemia. Acta Paediatr Suppl. 2004 May. 93(445):18-21. [Medline]. Diaz GA, Krivitzky LS, Mokhtarani M, Rhead W, Bartley J, Feigenbaum A, et al.[emedicine.medscape.com]
  • Epidemiology: The estimated incidence of 1:80,000 live births may be an underestimation because late onset cases may go undetected. In older individuals, the initial onset can occur at any age up to 40-50 years and beyond.[path.upmc.edu]
  • EPIDEMIOLOGY The overall incidence of the five urea cycle enzyme deficiencies is 1/10,000 live births. 1 All disorders of ammonia metabolism are inherited as autosomal recessive defects except for ornithine transcarbamylase deficiency that has an X-linked[nature.com]
  • Epidemiology 1 in 25,000 live births 62. Presentation Family history unexplained neonatal deaths or undiagnosed chronic illness. males affected Suggestive of OTC deficiency, X-linked trait . Consanguinity risk of inheriting disorder. 63.[slideshare.net]
Sex distribution
Age distribution

Pathophysiology

  • The pathophysiology of neurological disorders in childhood is based on the same principles of the organization, structure, and function of the nervous sys tem as apply to adults. Two pitfalls are present for the student, however.[books.google.de]
  • The pathophysiology of hyperammonemia is that of a CNS toxin that causes irritability, somnolence, vomiting, cerebral edema, and coma that leads to death.[emedicine.medscape.com]
  • The pathophysiology for this disorder is mostly unknown but there have been a few propositions for its origin. One study suggested that a transient platelet activation of the infant's portal system is responsible for this hyperammonemia.[en.wikipedia.org]
  • FINAL DIAGNOSIS: PARTIAL ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCY Pathophysiology: OTC deficiency is the most common of the urea cycle disorders (UCD).(1).[path.upmc.edu]
  • Pathophysiology Ammonia is a product of the metabolism of proteins and other compounds, and it is required for the synthesis of essential cellular compounds.[emedicine.medscape.com]

Prevention

  • - 0% Emergent - ED Care Needed - Preventable/Avoidable - 0% Emergent - ED Care Needed - Not Preventable/Avoidable - 0% Primary diagnosis of injury 0% Primary diagnosis of mental health problems 0% Primary diagnosis of substance abuse 0% Primary diagnosis[medicbind.com]
  • Ammonia toxicity and its prevention. Diabetes, Obesity and Metabolism 2009; 11: 823-835. Wilcken B. Problems in the management of urea cycle disorders. Mol Genet Metab 2004; 81: S86-S91. Back to Table of Contents[pedclerk.bsd.uchicago.edu]
  • Some of these disorders are potentially reversible; others are amenable to long-term therapy if early diagnosis and aggressive management in the neonatal period can prevent the catastrophic neurologic deterioration that accompanies massive hyperammonemia[pedsinreview.aappublications.org]
  • Rapidity of Toxin removal (ammonia) is important in preventing mortality. Most relevant indicator for prognosis is coma duration before the start of dialysis (6).It is not associated with short-term or long-term neurologic deficits (7).[ispub.com]

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