Symptoms
Symptoms of a biotinidase deficiency 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.
Biotinidase deficiency can also appear later in life. This is referred to as "late-onset" biotinidase deficiency. The symptoms are similar, but perhaps more mild, because if an individual survives the neonatal period they likely have some residual activity of biotin-related enzymes. Studies have noted individuals who were asymptomatic until adolescence or early adulthood. One study pointed out that untreated individuals may not show symptoms until age 21. Furthermore, in rare cases, even individuals with profound deficiencies of biotinidase can be asymptomatic.
Symptom severity is predictably correlated with the severity of the enzyme defect. Profound biotinidase deficiency refers to situations where enzyme activity is 10% or less. Individuals with partial biotinidase deficiency may have enzyme activity of 10-30%.
Functionally, there is no significant difference between dietary biotin deficiency and genetic loss of biotin-related enzyme activity. In both cases, supplementation with biotin can often restore normal metabolic function and proper catabolism of leucine and isoleucine.
The symptoms of biotinidase deficiency (and dietary deficiency of biotin) can be quite severe. A 2004 case study from Metametrix detailed the effects of biotin deficiency, including aggression, cognitive delay, and reduced immune function.
Read more about this topic: Biotinidase Deficiency
Famous quotes containing the word symptoms:
“There is one great fact, characteristic of this our nineteenth century, a fact which no party dares deny. On the one hand, there have started into life industrial and scientific forces which no epoch of former human history had ever suspected. On the other hand, there exist symptoms of decay, far surpassing the horrors recorded of the latter times of the Roman empire. In our days everything seems pregnant with its contrary.”
—Karl Marx (1818–1883)
“Murderous desire, hatred, distrust are nowadays the accompanying signs of physical illness: so thoroughly have we embodied our moral prejudices.—Perhaps cowardice and pity appear as symptoms of illness in savage ages. Perhaps even virtues might be symptoms.”
—Friedrich Nietzsche (1844–1900)
“In retirement, only money and symptoms are consequential.”
—Mason Cooley (b. 1927)