General Information for Families
Biotinidase deficiency (BTD) is an inherited disorder in which the body is not able to process the vitamin biotin properly. Biotin, sometimes called vitamin H, is an important water-soluble vitamin that aids in the metabolism of fats, carbohydrates, and proteins. Without treatment, this disorder can lead to seizures, developmental delay, eczema, and hearing loss. Problems can be prevented with biotin treatment.
Inheritance and Frequency
The gene defect for biotinidase deficiency is unknowingly passed down from generation to generation. This faulty gene only emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance the child will be a carrier for the gene defect. Studies show that 1 of every 60,000 live births will have biotinidase deficiency.
Signs & Symptoms
Infants with biotinidase deficiency appear normal at birth, but develop critical symptoms after the first weeks or months of life. Symptoms include hypotonia, ataxia, seizures, developmental delay, alopecia, seborrheic dermatitis, hearing loss and optic nerve atrophy. Metabolic acidosis can result in coma and death.
Long Term Effects
With early diagnosis and treatment, all symptoms can be prevented.
Treatment
Biotinidase deficiency is treated with free biotin, or biotin that is not bound to protein or other molecules. In patients diagnosed through screening, treatment will clear the skin rash and alopecia and improve the neurological status. It is necessary that treatment be managed by the doctor to be sure that the biotin is in the free form and in sufficient amounts.
Source: savebabies.org
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Family Questions & Concerns
What is biotinidase deficiency (bye-o-tin-ah-daze)?
Biotinidase deficiency is a condition that causes the body to have trouble using biotin, an important vitamin the body needs. Biotin is found in many foods. However, a person with biotinidase deficiency needs more biotin than the amount eaten in the normal diet. Biotinidase is an enzyme (a chemical that causes reactions in the body to take place) that helps to free or separate biotin from foods. Once biotin is free, it can be used by the body. In a person with biotinidase deficiency, the biotinidase enzyme is not working well, and the body does not have enough free biotin to use.
What causes biotinidase deficiency?
Biotinidase deficiency is inherited when both parents pass an abnormal biotinidase gene to their child. This means both parents are carriers of biotinidase deficiency. Carriers do not experience any health problems related to biotinidase deficiency. When two carriers of biotinidase deficiency have children together, there is a one in four (25%) chance for each child to have biotinidase deficiency.
How is biotinidase deficiency detected?
Newborn screening is done on tiny samples of blood taken from the infant’s heel 24-48 hours after birth. After a positive newborn screen, testing at special labs must be done to know for sure if a baby has biotinidase deficiency.
What problems can biotinidase deficiency cause?
Biotinidase deficiency is different for each child. Untreated biotinidase deficiency can cause seizures, low muscle tone (floppiness), hearing loss, eye problems, hair loss, skin rashes, and possibly coma or death. It is very important to follow the doctor’s instructions about caring for a child with biotinidase deficiency.
What is the treatment for biotinidase deficiency?
Biotinidase can be treated. A child needs to take extra biotin every day (more than what is normally eaten in the diet) in the form of a pill. The treatment is life-long. For children who have biotinidase deficiency:
- The child should have a primary care doctor, a pediatric metabolic specialist, and a dietician. These health professionals give the child good medical care and educate the family about the condition.
- Treatment for biotinidase deficiency is life-long, and a child with biotinidase deficiency should see a doctor regularly.
Source: Minnesota Newborn Screening Program
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National and State Specific Family Resources
View National and State Specific Family Resources
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Biotinidase Prevalence by State
The Region 4 Newborn Screening Data, summarized annually, provides detailed data on newborn screening results within Illinois, Indiana, Kentucky, Michigan, Minnesota, Ohio and Wisconsin. It is provided here to: assist families and physicians in knowing the relative number of confirmed annual cases for the disorder within each state and how it compares to other states in the region. assist families and specialists
across states in connecting with specialists who may have experience treating a
specific rare disorder. It is important to note that ongoing developments in the
sophistication of technology allows states to progressively increase the number of disorders they screen in their program.
| 2005 Confirmed Cases |
| 175659 |
85570 |
144509 |
124942 |
70934 |
71058 |
52222 |
724894 |
| 182799 |
107983 |
151193 |
133680 |
74887 |
73857 |
0 |
724399 |
| 1 |
1 |
7 |
19 |
0 |
5 |
0 |
33 |
| 2004 Confirmed Cases |
| 177603 |
87942 |
142023 |
134103 |
66625 |
70579 |
50930 |
729805 |
| 183727 |
107852 |
151296 |
127572 |
68895 |
71791 |
53583 |
764716 |
| 1 |
7 |
3 |
1 |
1 |
0 |
0 |
13 |
| 2003 Confirmed Cases |
| 182590 |
86382 |
151983 |
130937 |
70053 |
70157 |
55281 |
747383 |
| 185033 |
109133 |
152211 |
128970 |
73362 |
71095 |
53381 |
773185 |
| 2 |
1 |
0 |
1 |
0 |
0 |
0 |
4 |
| 2002 Confirmed Cases |
| 180622 |
84618 |
148720 |
129967 |
68560 |
68025 |
54233 |
734745 |
| 184033 |
109360 |
152561 |
127978 |
71634 |
67839 |
52775 |
766180 |
| 1 |
3 |
0 |
0 |
1 |
0 |
0 |
5 |
About this Data
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