Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s00134-012-2736-4 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Unusual Presentation of Propionic Acidemia Mimicking Botulism in an Infant: A Case Report and Literature Review.
Cureus
August 2024
Neurology, Henry Ford Health System, Detroit, USA.
Article Synopsis
- Propionic acidemia (PA) is a rare genetic metabolic disorder that can lead to serious health issues like hyperammonemia and neurological complications, particularly in newborns.
- A case study of an eight-month-old boy showed how respiratory symptoms from a viral infection masked underlying neurological deficits related to PA, including hypotonia and weakness.
- The need for careful monitoring and additional investigations is highlighted, as acute illnesses can obscure other significant metabolic problems and complicate diagnosis and treatment.
Unusual case of sodium valproate-induced hyperammonaemia encephalopathy.
BMJ Case Rep
November 2023
Psychiatry, Gold Coast University Hospital, Southport, Queensland, Australia.
There is limited information about sodium valproate-induced hyperammonaemia encephalopathy (VPAIHE). The aim of this case report is to provide medical practitioners with a greater awareness of the possible development of hyperammonaemia due to sodium valproate use and its associated complications.This paper describes a middle-aged man with a history of bipolar affective disorder who was admitted with a manic relapse secondary to medication non-compliance.
View Article and Find Full Text PDFA Very Rare Case of Diabetes Mellitus Occurring in a Patient With Hyperinsulinism Hyperammonemia Syndrome.
AACE Clin Case Rep
April 2023
Department of Medicine, Section of Endocrinology, Marshall University School of Medicine, Huntington, West Virginia.
Background/objective: To illustrate an unusual case of type 2 diabetes mellitus (T2DM) developing many years after the diagnosis of hyperinsulinism hyperammonemia (HI/HA) syndrome.
Case Report: This article reports about a 36-year-old female with a history of congenital hyperinsulinism due to HI/HA syndrome, which was diagnosed in infancy. The patient presented with hypoglycemia and seizures as an infant and was treated with diazoxide and a low-protein diet for many years with reduction in her hypoglycemic events.
Role of ammonia in NAFLD: An unusual suspect.
JHEP Rep
July 2023
Department of Hepatology and Gastroenterology, Aarhus University Hospital, Denmark.
Mechanistically, the symptomatology and disease progression of non-alcoholic fatty liver disease (NAFLD) remain poorly understood, which makes therapeutic progress difficult. In this review, we focus on the potential importance of decreased urea cycle activity as a pathogenic mechanism. Urea synthesis is an exclusive hepatic function and is the body's only on-demand and definitive pathway to remove toxic ammonia.
View Article and Find Full Text PDFRecurrent Non-cirrhotic Hyperammonemic Encephalopathy Due to Complicated Urinary Tract Infection: A Case Report.
Cureus
May 2023
Pulmonary and Critical Care Medicine, One Brooklyn Health/ Interfaith Medical Center, Brooklyn, USA.
Hyperammonemic encephalopathy (HE) can be broadly defined as an alteration in the level of consciousness due to elevated blood ammonia level. While hepatic cirrhosis is the most common cause of HE, non-hepatic causes like drugs, infections, and porto-systemic shunts can also lead to the presentation. In this case, we highlight an unusual occurrence of recurrent non-cirrhotic HE from obstructive urinary tract infection (UTI) with urea-splitting micro-organisms in an elderly male patient.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!