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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 in the blood. Symptoms can include severe developmental and mental retardation, seizures, autistic-like behavior, failure to thrive, vomiting, diarrhea, fever, jaundice, progressive liver disease, eye disorders, anorexia, hyperammonemia, coma, convulsions, lack of muscle tone and death. Treatments involve dietary restrictions and supplements.
Infants born with biotinidase deficiency are not able to recycle biotin, a B vitamin. This vitamin is not produced by the body and thus is only available from dietary sources. Biotinidase deficiency does not allow the body to release protein-bound biotin for use in the metabolism of fats, carbohydrates, and proteins. If untreated, infants with biotinidase deficiency can suffer from neurological abnormalities and developmental delay.
CAH is an inherited disorder that affects the way the body produces certain hormones that control vital body functions. If a baby has CAH, the body cannot make these hormones. Early diagnosis and treatment with hormones will prevent abnormal development and death.
CF is an inherited disorder resulting from mutations in the gene that regulates chloride transport through various membranes in the body. Characterized by thick and sticky mucous in the lungs and pancreas, this disorder commonly involves respiratory complications and impaired growth. Early diagnosis and therapy intervention can result in improved nutritional status and growth, improved lung function and fewer hospital stays.
Fatty acid oxidation disorders are caused by a genetic defect or absence of metabolic enzymes involved in breakdown of fatty acids that produce energy. These disorders are detected by certain levels of acylcarnitines in the blood. Some elevated levels of acylcarnitines and their break down products can be toxic. Symptoms can be variable including vomiting, lethargy, coma and death. Treatment involves avoidance of fasting, low fat diet, and dietary supplements.
Galactosemia is an inherited disorder which affects the body´s ability to breakdown galactose. Galactose is a sugar that is found in the disaccharide lactose or milk sugar. The buildup of galactose in the blood and other tissues of newborns with galactosemia begins soon after the infant begins taking milk (including breast milk) and infant formulas which contain lactose. Symptoms of galactosemia include vomiting, jaundice, failure to thrive and sepsis. Treatment involves elimination of lactose (and hence, galactose) from the diet. Without prompt treatment, neonatal mortality is high often due to E. coli sepsis.
Organic acid disorders are caused by a genetic defect or absence of metabolic enzymes involved in breakdown or activation of organic acids. These disorders are detected by increased levels of certain acylcarnitines in the blood. Some elevated levels of acylcarnitines and their break down products can be toxic. Symptoms include poor feeding, vomiting, seizures, metabolic acidosis, coma and death. Treatment involves dietary protein restriction and dietary supplements.
The thyroid gland makes a hormone that is important for normal growth and development. Primary hypothyroidism occurs when the baby´s thyroid gland does not make enough thyroid hormone. Early diagnosis and treatment with medication can prevent mental retardation and problems in growth and development.
SCID is a group of inherited disorders characterized by a deficiency or absence of functional T-cells which causes a loss of cellular and humoral immunity that has a 100% mortality rate from opportunistic infections if left untreated. Babies with SCID are not able to fight off common infections. Early symptoms include thrush, failure to thrive, diarrhea and fever. The early diagnosis, made possible by newborn screening, provides the best chance for successful treatment with a bone marrow transplant or gene therapy.
Sickle cell disease is an inherited disorder. This disease affects the way the body makes hemoglobin, a substance inside the red blood cells that carries oxygen throughout the body. Individuals with sickle cell anemia have serious health problems that can lead to frequent hospitalizations. Early diagnosis and treatment with penicillin can prevent serious illnesses and possible death.
* An amino acid profile and acylcarnitine profile are measured to detect disorders in fatty acid oxidation, organic acid metabolism and amino acid using electrospray tandem mass spectrometry (MS/MS).
Spinal muscular atrophy (SMA) is a group of inherited conditions that affect the motor neurons of the spinal cord. Motor neurons are specialized nerve cells that control the muscles used for activities such as breathing, crawling, and walking. In people affected by SMA, the loss of motor neurons leads to progressive muscle weakness and atrophy (wasting). There are four primary forms of SMA which are classified based on the severity of the condition and the age at which symptoms begin. The symptoms and long-term outlook of each form vary widely. In general, forms of SMA with an earlier age of onset are more severe and have a greater impact on motor function. Early detection and treatment of SMA is important since studies suggest that therapy is most effective when started in the first few months of life.
Updated: May 3, 2021