Search results
Results from the WOW.Com Content Network
Butyric acid is a typical carboxylic acid that reacts with bases and affects many metals. [12] It is found in animal fat and plant oils , bovine milk , breast milk , butter , parmesan cheese , body odor , vomit and as a product of anaerobic fermentation (including in the colon ).
This acid is a breakdown product of some amino acids by propionibacteria, which thrive in the ducts of adolescent and adult sebaceous glands. Because propionic acid is chemically similar to acetic acid , with similar characteristics including odor, body odors may be identified as having a pungent, cheesy and vinegar-like smell although certain ...
This odor is caused by the buildup of a compound called isovaleric acid in affected individuals. [5] In about half of cases, the signs and symptoms of this disorder become apparent within a few days after birth and include poor feeding, vomiting, seizures, and lack of energy that can progress to coma. These medical problems are typically severe ...
Most of the organic acidemias result from defective autosomal genes for various enzymes important to amino acid metabolism.Neurological and physiological harm is caused by this impaired ability to synthesize a key enzyme required to break down a specific amino acid, or group of amino acids, resulting in acidemia and toxicity to specific organs systems.
Symptoms are not specific, and diagnosis can be difficult unless patients present with clear indications for blood gas sampling. Symptoms may include palpitations, headache, altered mental status such as severe anxiety due to hypoxia, decreased visual acuity, nausea, vomiting, abdominal pain, altered appetite and weight gain, muscle weakness, bone pain, and joint pain.
In beta-ketothiolase deficiency, alpha-methyl-beta-keto-butyrate, alpha-methyl-beta-OH-butyrate and tiglyl glycine (upstream metabolites of the affected enzyme) may accumulate and may be detected on urine organic acid analysis by GC-MS. This may aid in the diagnosis, but for a more definitive diagnosis genetic confirmation needs to be done.
The symptoms are generally attributable to the underlying cause, but may include nausea, vomiting, shortness of breath, and generalised weakness. The diagnosis is made on biochemical analysis of blood (often initially on arterial blood gas samples), and once confirmed, generally prompts an investigation to establish the underlying cause to ...
It was previously assumed that 3-hydroxyisobutyrate dehydrogenase (HIBADH) deficiency in the valine catabolic pathway was the underlying enzyme defect, but new evidence suggests that individuals with 3-hydroxyisobutyryic aciduria represent a heterogeneous group that has various underlying mechanisms, such as respiratory chain defects or methylmalonate semialdehyde dehydrogenase deficiency.