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Mutations in the BTD gene cause biotinidase deficiency. Biotinidase is the enzyme that is made by the BTD gene. Many mutations that cause the enzyme to be nonfunctional or to be produced at extremely low levels have been identified. Biotin is a vitamin that is chemically bound to proteins. (Most vitamins are only loosely associated with proteins.)
Therefore, all patients receiving TPN must also receive biotin at the recommended daily dose, especially if TPN therapy is expected to last more than 1 week. All hospital pharmacies currently include biotin in TPN preparations. [2] Protein deficiency (not certain): A shortage of proteins involved in biotin homeostasis can cause biotin deficiency.
Vitamin K deficiency bleeding (VKDB) due to physiologically low vitamin K plasma concentrations is a serious risk for premature and term newborn and young infants. Untreated, consequences can cause brain damage or death. The prevalence of VKDB is reported at 0.25 to 1.7%, with higher risk in Asian populations.
Thiamine deficiency is a medical condition of low levels of thiamine (vitamin B 1). [1] A severe and chronic form is known as beriberi. [1] [7] The name beriberi was possibly borrowed in the 18th century from the Sinhalese phrase බැරි බැරි (bæri bæri, “I cannot, I cannot”), owing to the weakness caused by the condition.
Signs of a biotin deficiency may appear gradually, per the NIH. In the later stages, a biotin deficiency can cause: Hair thinning. Hair loss. A scaly, red rash around orifices. Dry, red eyes ...
Rare causes of chronic diarrhea in young children include a group of genetic mutations known as "congenital diarrhea and enteropathies" (CODEs). This group of genetic disorders usually presents in the first weeks of birth as severe and debilitating diarrhea and can lead to malabsorption, growth failure, and difficulty feeding. [13]
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.
Subclinical deficiency can cause mild symptoms, such as hair thinning, brittle fingernails, or skin rash, typically on the face. [2] [4] Aside from inadequate dietary intake (rare), biotin deficiency can be caused by a genetic disorder that affects biotin metabolism. The most common among these is biotinidase deficiency.
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