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Refsum disease is an autosomal recessive [5] neurological disease that results in the over-accumulation of phytanic acid in cells and tissues. It is one of several disorders named after Norwegian neurologist Sigvald Bernhard Refsum (1907–1991).
Signs and symptoms of a biotinidase deficiency (BTD) can appear several days after birth. These include seizures, hypotonia and muscle/limb weakness, ataxia, paresis, hearing loss, optic atrophy, skin rashes (including seborrheic dermatitis and psoriasis), and alopecia. If left untreated, the disorder can rapidly lead to coma and death.
Genetic disorders such as multiple carboxylase deficiency (MCD) (which includes biotinidase deficiency and holocarboxylase synthetase deficiency) [1] can also lead to inborn or late-onset forms of biotin deficiency. [2] In all cases – dietary, genetic, or otherwise – supplementation with biotin is the primary (and usually only) [3] method ...
One important note: Excess biotin can also "cause incorrect results in certain laboratory tests that look at thyroid levels and blood markers that can help diagnose heart attacks," says Dr. Castillo.
Other symptoms to note: Drug rashes can be a side effect of or a reaction to a new medication; almost any medication can cause a drug rash, but antibiotics and NSAIDs are the most common culprits ...
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 the blood. [citation needed]
Livedo reticularis is a common skin finding consisting of a mottled reticulated vascular pattern that appears as a lace-like purplish discoloration of the skin. [1] The discoloration is caused by reduction in blood flow through the arterioles that supply the cutaneous capillaries, resulting in deoxygenated blood showing as blue discoloration ().
The terms ω−3 ("omega−3") fatty acid and n−3 fatty acid are derived from the nomenclature of organic chemistry. [2] [20] One way in which an unsaturated fatty acid is named is determined by the location, in its carbon chain, of the double bond which is closest to the methyl end of the molecule. [20]
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