DEFICIENCY OF BIOTINIDASE is a treatable metabolic disease in which the body is unable to obtain the vitamin BIOTIN in the proper way. Early diagnosis with initiation of treatment even in the first months of life assures the baby a normal life without any symptoms of the disease.
The human body is very complex. Within it, thousands of chemical reactions occur involving the food we eat, the air we breathe, our adaptation to the environment, and our growth and development. Some of these chemical reactions allow food to be processed or metabolized for use by our body.
Enzymes are special proteins produced by the body to allow chemical reactions to occur. Enzymes with adequate function are called active or with activity. Some enzymes need vitamins to be active. Often a single active enzyme acts in the supply of various substances that our body needs.
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Sometimes the body does not produce a sufficient enzyme or the enzyme that is manufactured does not work properly. This causes the enzyme to have a reduction of its activity and does not function as it should. Other chemical reactions that depend on this enzyme may also be impaired.
If the activity of the enzyme is less than 10% of its normal activity it is considered deficient. Normally enzymatic deficiencies entail medical problems. Health problems resulting from a deficient enzyme are called metabolic diseases because the metabolism or chemical processes of the body is not happening normally.
Biotinidase is an important enzyme in our body. People with biotinidase deficiency do not have sufficient biotinidase activity (Figure 01). Individuals with biotinidase deficiency have enzyme activity less than 10% of normal and sometimes have no activity. These individuals with biotinidase activity less than 10% of the normal mean have profound biotinidase deficiency. Parents of children with biotinidase deficiency have approximately 50% of normal biotinidase activity, which is sufficient to prevent health problems. People who have biotinidase activity between 10 and 30% of normal have partial deficiency of biotinidase. Both forms require treatment. The figure below illustrates the percentages of biotinidase activity in blood and compares them with normal activity.
Biotinidase is an important enzyme in the biotin cycle, the chain of chemical reactions involved in the use and reuse of vitamin biotin. An important task of biotinidase is to separate or release biotin from food proteins. In addition, biotinidase allows the body to recycle biotin several times so there is no need to consume large amounts of this vitamin in our daily diet.
Free biotin is required so that a group of enzymes called carboxylases work perfectly. Carboxylases are important in the metabolism of some fats, carbohydrates and proteins. In order for the inactive carboxylase to become active, the free biotin must be attached to the amino acid, lysine, at a specific site of the inactive carboxylase.
Eventually the carboxylases are degraded, but the biotin is attached to the lysine. This biotin-lysine complex is known as biocitin. Biocitin is normally degraded by biotinidase in free biotin and lysine. In this way, biotin is recycled and can be reused by the carboxylases.
When biotinidase activity is deficient the biotin that is contained in food can not be used by the carboxylases. Carboxylases are incapable of performing their normal functions. Without proper biotinidase activity, the body needs large amounts of free biotin, more than is consumed in a normal diet. When there is no biotin available in the body, health problems begin to appear.
A frequent question is: how does biotinidase deficiency affect my child?
WITHOUT TREATMENT
Without the ingestion of biotin, children with biotinidase deficiency may develop one or more of the following symptoms:
- Alopecia (hair loss) .
- Delayed development.
- Hypotonia.
- Aciduria lactic.
- Convulsions .
- Skin rashes / skin infections.
- Ataxia.
- Conjunctivitis.
- Loss of hearing.
- Lethargy.
- Mild hyperammonemia.
- Breathing problems.
- Vision problems.
- With the.
- Difficulty feeding.
- Fungal infections.
- Hepatomegaly (enlarged liver).
- Speech problems.
- Splenomegaly (enlargement of the spleen).
Symptoms usually manifest between the third and sixth month of life, but may appear earlier, for example, at one week of life or later at ten years of age. The number of symptoms a child develops and the seriousness of the disorder can vary from child to child, even though they are from the same family.
Initial symptoms of biotinidase deficiency usually include convulsions of various types, especially myoclonic seizures, and hypotonia. These symptoms are not unique to biotinidase deficiency, but are a clue to investigate it. Other symptoms that occur early include tachypnea (rapid breathing), hyperventilation, stridor (noisy breathing), apnea, skin rashes, seborrhea or atopic dermatitis, partial or complete hair loss, conjunctivitis, delayed mental development. Ataxia and developmental delay are observed in the course of the disease. The immune system apparently alters and viral and bacterial infections can occur in untreated children. Hearing loss is usually sensorineural and vision problems, primarily optic atrophy, may arise. Metabolites can accumulate abnormally causing permanent damage to organs such as brain, skin, ear and eyes. Children who do not receive adequate treatment can die early.
According to research by Dr. Barry Wolf * 95% of children who have some type of symptom also have some degree of hearing loss. So if your child / patient has any of the symptoms listed above, you should do a hearing test. If your child did not present any symptoms and was medicated in the first weeks of life the examination is not necessary.
Deficiency of undiagnosed and treated biotinidase may be considered one of the causes of Sudden Infant Death Syndrome, although more information is needed in this area.
WITH TREATMENT:
All children who developed the symptoms of biotinidase deficiency had significant and rapid improvements with the onset of biotin ingestion.
Children who underwent the neonatal screening test (Pezinho Test) and started treatment early to date did not develop any of the symptoms.
HOW IS DEFICIENCY DIAGNOSED?
Diagnosis of BIOTINIDASE DEFICIENCY is performed through the neonatal screening test, better known as Pezinho Test. With an early diagnosis the treatment can be initiated even in the first month of life, thus preventing symptoms from manifesting.
WHAT IS THE SCAN TEST?
It is an analytical method valid for the identification of some individuals, of a certain population, with high probability of manifesting a particular disease. When the neonatal screening test presents a change, another analytical procedure is necessary to provide data that allow a differential diagnosis to be made. Therefore, the result of the screening test, alone, is not definitive.
HOW IS MY BABY TEST MADE?
A drop of blood is obtained from the baby's heel, a vascularized and almost painless zone, and impregnated on a special filter paper. After the blood has dried, the sample can be sent by the Post Office to a specialized laboratory. A "pick" of the paper with the blood is removed, and through biochemical procedures the activity of the enzyme is "measured" by the color intensity present at the end of the reaction. The absence of color or staining below the standards used defines the result of the screening: absence or decrease of biotinidase activity.
CLINICAL DIAGNOSIS IS POSSIBLE?
Yes; In the most severe cases, the symptoms appear after six months. As it is a disease that is difficult to recognize by the physician (its symptoms are confused with those of several other pathologies) the clinical diagnosis may not be made and the consequences can be very serious.
HOW TO ASSURE THAT THE TEST IS RELIABLE?
The laboratory works with biological variables. How to ensure that an airplane will not fall or that we will not have accidents on a trip? A general limitation of any screening test is that not all affected individuals will be identified, but almost 100% will be identified. In general, false-positive results (not confirmed in subsequent tests) are more likely than false-negative results (presence of disease and result expressed as normal).
IF THE RESULT HAS TAKEN PARTIAL ACTIVITY THE TEST MUST BE REFURBISHED?
The screening test should ALWAYS be confirmed. Biotinidase is an enzyme that is sensitive to heat and time. The first confirmation can be made on filter paper. If the confirmed activity is confirmed, the confirmatory test must be done in the serum (collection of the arm), and this should be sent to the frozen laboratory.
WHAT IF YOU HAVE SUSTAINED ACTIVITY?
The analysis should be done directly in the serum and as soon as possible. Remember that of all diseases of the foot test, it is the easiest, cheap and effective treatment.
HOW IS BIOTINIDASE DEFICIENCY TREATED?
People with BIOTINIDASE DEFICIENCY are unable to get BIOTIN in their daily diet. For a successful treatment it is necessary to take 5 to 20 mg of BIOTIN FREE daily, orally for an indefinite time.
Children with BIOTINIDASE DEFICIENCY who initiate treatment early do not develop symptoms related to this disorder. It is a lifelong treatment and should not be interrupted.
Biotin can be obtained from handling pharmacies. The price of biotin can vary from state to state. There have already been price variations of up to 650% from one pharmacy to another, in different cities. Since it is a permanent treatment, it is worth consulting in several pharmacies, remembering that care must be taken to acquire biotin in a well-accredited pharmacy.
No serious side effects from biotin ingestion are known, despite the limited amount of information available on continued use of the vitamin. With the progress of children treated with biotin, doctors are gaining a better understanding of the need for biotin in the body.
Biotin is usually handled and delivered to the patient in capsules or tablets. Do not use tablets. Use the capsules that can be unlocked and added in the baby's milk or in your food. In the case of mothers who are breastfeeding their babies, one should manually remove the milk from the breast and dissolve the biotin in a small amount of it. Make sure the baby is ingesting all the medicine. The most practical thing is to dissolve the contents of the capsule and to give in a spoon or cup with milk, juice or water. Bottle feeding is not a good option as the powder can be trapped in the bottle nozzle. Liquid biotin should not be administered as it may result in an inadequate dosage. Usually biotin is administered once daily.
WHAT CAUSES BIOTINIDASE DISABILITY?
Children with biotinidase deficiency received the genetic inheritance of two genes for biotinidase deficiency, one from the father and one from the mother. It is not caused by something that either parent did before or after the baby's birth.
The instructions for the body to make the biotinidase enzyme function are encoded in a pair of genes. Genes are tiny units of genetic information that tell our body cells how to do certain jobs, such as enzymes. We all possess a unique set of 50,000 to 100,000 different gene pairs, each encoded to exert a function. The instructions are received from a single code in the DNA, the material with which the genes are made. If there is some kind of error in the instructions the gene product will not work properly.
Genes are organized into small groups called chromosomes. In each chromosome there are between 2,000 and 5,000 genes. Each cell has 23 pairs of chromosomes, one member of each pair is inherited from the parent and one member inherited from the parent. There are 22 pairs of autosomes (non-sex chromosomes) and 01 pair of sex chromosomes (which determines whether the person is a man or a woman).
Because the chromosomes come in pairs, the genes also come in pairs. One copy of each gene is inherited from the mother and one from the father. Although a child divides half of its genes with each parent, it is still different from them, since it receives the other half of the other parent. Brothers and sisters also have their own combination because they never inherit exactly the same combination of genes unless they are identical twins.
People with biotinidase deficiency receive a defective biotinidase gene from the father and mother. As they have no copies of the normal gene the biotinidase activity of their body does not work or is very low.
People who have a normal gene and a gene with biotinidase deficiency have 50% levels of enzyme activity but are sufficient to prevent symptoms. These people are called carriers (heterozygotes) of biotinidase deficiency.
All parents of a child with biotinidase deficiency are carriers that have generated a recessive condition. This gene is not identified except when the father and mother are carriers and generate a recessive child. The probability of carrier parents generating a carrier child is 50% for each pregnancy. Already the chance of generating a child with biotinidase deficiency is 25% in each pregnancy. And there is also a 25 percent chance of generating a child who does not carry the "defective" gene.
That is, a couple may have more than one child with biotinidase deficiency. But at the same time you can simply have a child without even having the biotinidase deficient gene.
If you have a child with biotinidase deficiency, make sure your other children (if any) have taken the biotinidase deficiency test. Everybody should do it.