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Glossary

Amino acid - the basic unit of proteins. The human body makes some amino acids, while others, called essential amino acids, are obtained only from foods containing protein.

Biotinidase Deficiency - (not enough of the enzyme biotinidase) leads to seizures, skin infections, hair loss, hearing and vision loss, mental retardation, and possibly coma and death. Giving the baby extra biotin (a vitamin) avoids problems.

Chromosome - structures found in the nucleus of a cell, which contains genes. Chromosomes come in pairs, one inherited from each parent, and a normal human cell contains 46 chromosomes, 22 pairs of chromosomes (non-sex chromosomes) and two sex chromosomes (either XX or XY).

Congenital - characterizing a condition present or existing at birth.

Congenital Adrenal Hyperplasia (CAH) - Most babies with this problem do not have enough of the chemical 21-hydroxylase. Without 21-hydroxylase, a baby’s growth and development will not be normal. A baby with CAH is given medicine called hydrocortisone, and needs regular medical care.

Cystic Fibrosis (CF) - Cystic fibrosis causes thick mucus to collect in the lungs and intestines. Mucus prevents proper breathing and can cause poor digestion of food. Lung infections and digestive problems will need medical treatment. A baby with CF will need regular medical care and a good diet.

Congenital Hypothyroidism - is caused when a baby is born without enough thyroid hormone. This can lead to poor growth and mental retardation. Giving the baby extra thyroid hormone results in normal growth and development.

DNA - the substance of heredity; a large molecule that carries the genetic information that cells need to replicate and to produce proteins.

DNA (Molecular)-Based Testing - a testing technology using known genetic DNA mutations.

Diagnosis/diagnostic - the determination of the existence and nature of a disease or condition.

Fatty Acid Oxidation Disorders - Babies with one of these disorders have trouble burning fat for energy. This can lead to vomiting, low blood sugar or more serious problems such as coma. Treatment depends on the disorder a baby has but may include a special diet and medication. A baby with a fatty acid oxidation disorder must have regular medical care.

False Negative Test - a test that is "negative" or "normal", when in fact the person does have the disease.

False Positive Test - a test that is "positive" or "abnormal," when in fact the person does not have the disease.

Galactosemia - is caused when a baby cannot digest the sugar found in milk. The condition leads to cataracts, liver damage, mental retardation and usually death. Substituting a special formula for milk starting in the first weeks of life helps to avoid these problems.

Gene - the functional unit of heredity that carries the instructions needed to create an enzyme or other protein. Genes are organized into structures called chromosomes and are located in the nucleus of each cell.

Gene Testing - examining a sample of blood or other body fluid or tissue for biochemical, chromosomal, or genetic markers that indicate the presence or absence of genetic disease.

Genetic - influenced or produced by genes. Relating to the branch of science concerned with heredity.

Hemoglobin - a respiratory protein contained in red blood cells that transports oxygen from the lungs to the tissues of the body. Its structure consists of two pairs of globin (alpha and beta) chains and a heme (iron) group that binds the oxygen.

Hemoglobinopathy (Hemoglobin Disorder) - a condition caused by a defect in the genetic code for hemoglobin synthesis. This defect affects the amount or the quality of the hemoglobin being produced.

Homocystinuria - is caused when a baby is unable to use the amino acid methionine found in proteins of foods. This disorder can lead to mental retardation, seizures and usually death. A special low-protein diet helps to avoid many of these problems.

Maple Syrup Urine Disease (MSUD) - is caused by a baby's inability to use several amino acids. The baby's urine smells like maple syrup. This disorder leads to mental retardation, seizures and usually death. A special low-protein diet helps to avoid many of these problems.

Metabolic - relating to metabolism (chemical changes occurring in the various tissues of the body).

Metabolic Center - it is universally recognized that the diagnosis, treatment and counseling of patients with complex inherited metabolic disorders, particularly those detected by newborn screening programs, requires special expertise and experience which is optimally provided by a team of specialists in an ambulatory setting devoted to the management of these patients (i.e., a comprehensive treatment center). Such centers include the following three components:

  1. Team of expert and experienced health care personnel.
  2. Devoted comprehensive multidisciplinary clinical setting, and
  3. Onsite metabolic genetic laboratory (preferable) or a formal relationship with a metabolic genetic laboratory for the required immediate (stat) and ongoing testing and monitoring of patients with metabolic disorders.

Metabolic Laboratories - the addition of screening for complex metabolic disorders requires the resources of a specialized metabolic laboratory with the capability of a) establishing a relationship with the newborn screening program and metabolic center, b) synchronizing protocols for the initial confirmation of screen positive infants, and c) performing required testing with turnaround times appropriate for the proper management of these patients.

Organic Acidemias - Babies with one of these disorders cannot remove certain waste products from their blood. This can lead to vomiting, low blood sugar or more serious problems such as coma. Treatment depends on the disorder a baby has but may include a special diet and medication. A baby with an organic acidemia must have regular medical care.

Phenylketonuria (PKU) - is caused by a baby's inability to breakdown the amino acid phenylalanine. If not treated early, PKU leads to brain and nerve damage and mental retardation. A special low- protein diet beginning in the first weeks of life allows the baby to develop normally.

Prenatal Diagnosis - procedures and tests, which diagnose birth defects before the baby is born.

Screening Program - a program in which a large population is tested for a particular disease or disorder in a cost effective manner with the purpose of identifying those individuals at significantly high enough risk to warrant follow-up diagnostic tests. Screening programs can identify most, but not all, individuals with any of the disorders for which they screen.

Sensitivity - the probability that a person with a disease will have a positive test result.

Specificity - the probability that a test will be negative in a person free of a disease.

Tandem Mass Spectrometry (MS/MS) - a laboratory technology for rapid highly sophisticated chemical analysis, which can detect over 30 metabolic disorders. This technology to screen for these disorders has only become available in recent years.

Urea Cycle Disorders - Babies with one of these disorders accumulate excessive amounts of ammonia and this may lead to behavioral problems, mental retardation, coma and even death. Treatment includes a special diet and/or medication with close monitoring by a medical genetic specialist.


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Last Modified: Wednesday, 11-Jul-12 16:46:20