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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 ...
VLCAD (very long-chain-acyl-dehydrogenase) deficiency is exclusively linked to genetic mutations in DNA. A change of the gene that codes for very long-chain-acyl-CoA-dehydrogenase (VLCAD) results in a deficiency or malfunction of the produced VLCAD enzyme. [7] This mutation occurs on chromosome 17 and can be altered via a variety of pathways. [4]
The side effects of cyproterone acetate (CPA), a steroidal antiandrogen and progestin, including its frequent and rare side effects, have been studied and characterized.It is generally well-tolerated and has a mild side-effect profile, regardless of dosage, when it used as a progestin or antiandrogen in combination with an estrogen such as ethinylestradiol or estradiol valerate in women.
The level of aggressiveness of treatment and choice of treatment may change depending on the severity of the disturbance. [3] If the levels of an electrolyte are too low, a common response to electrolyte imbalance may be to prescribe supplementation.
Other effects Severe 21-hydroxylase deficiency causes salt-wasting CAH: The most common cause of ambiguous genitalia due to prenatal virilization of genetically female (XX) infants. Life-threatening vomiting and dehydration occurring within the first few weeks of life. Aldosterone and cortisol levels are both reduced.
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]
Hypocalcemia is a medical condition characterized by low calcium levels in the blood serum. [5] The normal range of blood calcium is typically between 2.1–2.6 mmol/L (8.8–10.7 mg/dL, 4.3–5.2 mEq/L), while levels less than 2.1 mmol/L are defined as hypocalcemic.
Guanidinoacetate methyltransferase deficiency (GAMT deficiency) is an autosomal recessive [1] cerebral creatine deficiency that primarily affects the nervous system and muscles. It is the first described disorder of creatine metabolism, [ 2 ] and results from deficient activity of guanidinoacetate methyltransferase , an enzyme involved in the ...