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Pentadecylic acid, also known as pentadecanoic acid or C15:0, is an odd-chain saturated fatty acid. Its molecular formula is CH 3 (CH 2) 13 CO 2 H. It is a colorless solid. A laboratory preparation involves permanganate oxidation of 1-hexadecene (CH 3 (CH 2) 13 CH=CH 2). [2] It is one of the most common odd-chain fatty acids, although it is ...
As with other uncommon inherited metabolic illnesses, there are no controlled treatment studies for 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency. Consequently, it is impossible to make any judgments about whether a particular diet or carnitine supplements are required. Clinical reports and pathobiochemical considerations suggest that the ...
Carnitine deficiency is found in about 50% of cases. [18] Over 90% of those diagnosed with 3-Methylcrotonyl-CoA carboxylase deficiency by newborn screening remain asymptomatic. The medical abnormalities that present in the few who do show symptoms are not always clearly related to 3-Methylcrotonyl-CoA carboxylase deficiency. [5]
Treatment for all forms of this condition primarily relies on a low-protein diet, and depending on what variant of the disorder the individual suffers from, various dietary supplements. All variants respond to the levo isomer of carnitine as the improper breakdown of the affected substances results in sufferers developing a carnitine deficiency.
The specificity of progesterone as a marker of 21-hydroxylase deficiency, as opposed to deficiency of other enzymes involved in steroid pathways, is still not well studied. [ 184 ] [ 185 ] [ 186 ] Cortisol is one of the two main final products of 21-hydroxylase, and the deficiency of this enzyme may lead to a certain degree of cortisol deficiency.
Pharmacologic treatment in acute situations consists of replacing the enzyme concentrate that is deficient or dysfunctional in this disease process. [20] In life-threatening situations, including cases of oral and pharyngeal swelling, it is important to manage these symptoms and to protect the airways to lower the risk of mortality. [ 20 ]
Second, treatment with high dose vitamin C should be avoided in patients with glucose-6-phosphate dehydrogenase deficiency as it can lead to acute hemolysis. Third, treatment might interfere with the accuracy of glucometer measurement of blood glucose levels, as both vitamin C and glucose have similar molecular structure, which could lead to ...
Forms include: [citation needed] Holocarboxylase synthetase deficiency - neonatal;; Biotinidase deficiency - late onset;; If left untreated, the symptoms can include feeding problems, decreased body tone, generalized red rash with skin exfoliation and baldness, failure to thrive, seizure, coma, developmental delay, foul smelling urine, lactic acidosis, and high levels of ketones and ammonia in ...