Glossary of Terms

Adrenal Glands:
Triangular shaped glands located on top of the kidneys. They produce hormones such as estrogen, progesterone, steroids, cortisol and cortisone, and chemicals such as adrenalin, norepinephrine, and dopamine. When the glands produce more or less hormones than required by the body, disease conditions may occur.

Amino Acid Disorder:
Amino acid disorders are caused by a genetic defect or absence of certain metabolic enzymes. These disorders are detected by increased levels of certain amino acids, the building blocks of protein, in the blood. Without treatment, the build up of these chemicals can cause serious medical problems affecting the baby's health and development, including damage to vital organs, seizures and coma. Treatment depends upon the disorder the baby has, but may include special low protein diets, medical treatment, and medications.

Biotinidase Deficiency
An enzyme deficiency that occurs when a baby lacks the enzyme biotindiase needed to recover and recycle the vitamin biotin. The symptoms of Biotinidase Deficiency include skin problems, frequent infections, hearing problems, seizures, and brain damage. Treatment consists of a daily dose of the vitamin biotin.

Confirmatory/Diagnostic Test:
Tests done to determine the presence or absence of disease.

Congenital:
Existing at and usually before birth, referring to conditions that are present at birth regardless of how it was caused.

Congenital Adrenal Hyperplasia (CAH):
An inherited condition that affects the adrenal glands. These glands are located on top of the kidneys and produce three types of hormones called cortisol, aldosterone and androgens. Females with classical CAH are born with masculine appearing external genitals but with female internal sex organs. Males with classical CAH appear normal at birth. Males and females with classical CAH are likely to have trouble retaining salt, a condition that can be life threatening.

Congenital Hypothyroidism:
Occurs when a baby does not have enough thyroid hormone. Thyroid hormones play a vital role in body growth and brain development. Without an adequate amount of thyroid hormone, the baby may not develop normally, which can result in mental retardation or shunted growth.

Cystic Fibrosis (CF):
A disorder that causes thick, sticky mucus to build up in the lungs, digestive system, and other organs of the body. The symptoms of CF include lung infections, difficulty digesting food and nutrients, and poor growth. Treatment consists of enzyme supplements taken with meals and respiratory treatments to help with breathing. Regular medical care by a medical specialist is necessary.

Endocrinologist:
A medically qualified specialist in internal medicine who has a subspecialty in diseases that affect the glands, i.e. thyroid gland, pituitary gland, etc.

Expanded/Supplemental Newborn Screening:
Screening using tandem mass spectrometry that can detect amino acid disorders, fatty acid oxidation disorders and organic acid disorders.

Fatty Acid Oxidation Disorders:
A baby with one of these disorders has trouble burning fat for energy. Without treatment, these disorders can lead to serious medial problems affecting the baby's health and development, including seizures, liver damage and coma. Treatment depends upon the disorder the baby has, but may include special diets, supplements and medications.

Galactosemia:
An inherited condition resulting in the inability of the body to digest one of the sugars (galactose) found in breast and cow's milk. The resulting accumulation of galactose in the body's system can cause many problems, including liver damage, cataracts, mental retardation and possible death.

Gene:
The primary unit of inheritance, carried by the chromosome. The functional and physical unit of heredity passed from parent to child. Genes determine our various characteristics such as hair texture, skin color, height, shape of nose, lips, etc.

Genetic Counseling:
A short-term educational counseling process for individuals and families who have a genetic disease or who are at risk for such a disease. Genetic counseling provides patients with information about their condition and and helps them make informed decisions.

Geneticist:
A medically qualified professional who specializes in the study of heredity and its variation.

Hemoglobinopathies:
Are a group of disorders affecting red blood cells. Hemoglobin is the part of the red cell carrying oxygen in the blood. If there is abnormal hemoglobin in the blood it is referred to as a hemoglobinopathy. This group includes sickle cell anemia, where the blood cell is a different shape than what it should be. The normal shape is round. The sickle cell is crescent or sickle shaped. The sickle shaped cell does not live as long as normal cells and can block tiny blood vessels. In addition to screening for sickle cell anemia, the Missouri Newborn Screening Program tests for hemoglobin types C, E, D, F and X.

Inherited:
To receive certain defined characteristics from a parent by transmission of genes from both parents.

Metabolic Disease:
A disorder caused by the accumulation of chemicals produced naturally in the body. These diseases are usually serious, some even life threatening. Others may slow physical development or cause mental retardation. Most infants with these disorders, at first, show no obvious signs of disease. Proper screening at birth can often discover these problems. With early diagnosis and treatment, metabolic diseases can often be managed effectively.

Newborn Screening:
A public health screening program to screen newborns for the presence of certain metabolic or genetic conditions. Screening is done within days of birth to identify infants at increased risk for a specific genetic or endocrine disorder so that treatment can begin as soon as possible: when a newborn screening result is "out-of-the-expected range", further diagnostic testing is usually required to confirm or specify the results.

Organic Acid Disorders:
A baby with one of these disorders cannot remove certain waste products from their blood. Without treatment, the buildup of these waste products causes serious medical problems affecting the baby's health and development, including seizures, coma and brain damage. Treatment depends on the disorder, but may include special diets, supplements and medications.

Out of the Expected Range:
An out of the expected range newborn screening result means that a disorder may be present.

Phenylketonuria or PKU:
An inherited condition resulting in the inability of the baby to use one part of the protein found in most foods (phenylalanine). This protein builds up in the blood and prevents the brain from developing normally.

Sickle Cell Anemia:
An inherited disorder of the red blood cells in which the hemoglobin (the red oxygen carrying pigment of the cell) is different from the usual type. This unusual hemoglobin results in the production of unusually shaped cells, which do not survive the usual length of time in the blood circulation. Thus, anemia results. Sickle cell anemia is the result of the inheritance of the gene for sickle cell hemoglobin (S) from both parents.

Tandem Mass Spectrometry (MS/MS):
Two mass spectrometers, analytical instrument, hooked together to "electronically" weigh molecules. The weight of a molecule is its mass. Every molecule has a unique mass.

"Too Early" Specimen:
The blood specimen was collected before the baby was 24 hours old.

Unsatisfactory Specimen:
There is not enough blood to complete all of the required screening tests, or the sample cannot be tested for other reasons, such as too much blood on the sample.