Disorder Descriptions

Disorder Descriptions

  • Adenosine Deaminase deficiency (ADA) (SCID)

    Adenosine deaminase (ADA) deficiency is an inherited disorder that damages the immune system and causes severe combined immunodeficiency (SCID). Children with SCID lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. These infections are often caused by “opportunistic” organisms that ordinarily do not cause illness in people with a normal immune system. Infants with SCID typically experience pneumonia, chronic diarrhea, and widespread skin rashes, and grow much more slowly than healthy children. Some also have neurological problems such as developmental delay, movement disorders, and hearing loss. If not treated in a way that restores immune function, children with SCID usually live only a year or two. More Information

  • Arginase deficiency (ARG)

    An inherited disorder that causes the amino acid arginine and ammonia to accumulate gradually in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. More Information

  • Argininosuccinic aciduria (ASA)

    An inherited disorder of the Urea Cycle in which the body cannot process a proteins which causes ammonia to accumulate in the blood. Ammonia is toxic especially to the brain and liver if the levels become too high. More Information

  • Beta-ketothiolase deficiency (BKT)

    An inherited disorder in which the body cannot effectively process a protein building block (amino acid) called isoleucine. This disorder also impairs the body’s ability to process ketones, which are molecules produced during the breakdown of fats. More Information

  • Carnitine Palmitoyltransferase II (CPT II)

    An inherited disorder that prevents carnitine from normally attaching to long-chain fatty acids that is used to make energy in the mitochondria. There are three main types of CPT II deficiency: a severe newborn form, a severe infant form that affects the heart and liver, and a later-onset form that affects muscles. More Information

  • Carnitine Uptake Defect (CUD)

    An inherited disorder that prevents the body from using certain fats for energy, particularly during periods without food (fasting) or when sick. Carnitine is a critical chemical to help the body maintain normal energy levels especially in skeletal or heart muscle. More Information

  • Citrullinemia (CIT)

    An inherited disorder of the Urea Cycle in which the body cannot process a proteins which causes ammonia to accumulate in the blood. Ammonia is toxic especially to the brain and liver if the levels become too high. More Information

  • Citrullinemia Type II (CIT II)

    An inherited disorder of the Urea Cycle in which the body cannot process a proteins which causes ammonia to accumulate in the blood. Ammonia is toxic especially to the brain and liver if the levels become too high. This disorder also has a late-onset type not seen until adulthood. More Information

  • Classic Galactosemia (GALT)

    An inherited disorder that affects how the body processes a (not simple since it is a disaccharide)sugar called galactose commonly found in breast milk and dairy foods. The signs and symptoms of galactosemia result from an inability to use galactose to grow and develop normally. More Information

  • Cobalamin Disorders

    A group inherited disorders that prevents proper use of several different types of Vitamin 12 in the body that makes it hard to breakdown some proteins and fats. More Information

  • Congenital Hypothyroidism (CH)

    A condition that affects infants from birth (congenital) and results from a partial or complete loss of thyroid function (hypothyroidism). Congenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. More Information

  • Cystic Fibrosis (CF)

    An inherited disease of the way our body uses chloride a chemical found in salt which affects body systems that make or use mucus such as our lungs and GI tract. More Information

  • Fabry Disease

    An inherited disorder that results from the buildup of a particular type of fat in the body’s cells. Characteristic features of Fabry disease include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); and hearing loss. More Information

  • Galactokinase 1 (GALK 1)

    An inherited disorder that affects the second enzyme that processes the sugar called galactose commonly found in breast milk and dairy foods. The signs and symptoms of galactosemia result from an inability to use galactose to grow and develop normally. More Information

  • Galactose epimerase deficiency (GALE)

    An inherited disorder that affects the third enzyme that processes the sugar called galactose commonly found in breast milk and dairy foods. The signs and symptoms of galactosemia result from an inability to use galactose to grow and develop normally. More Information

  • Gaucher Disease

    An inherited disorder that affects many of the body’s organs and tissues. The signs and symptoms of this condition vary widely among affected individuals because there are several different types. Type 1 Gaucher disease is the most common form of this condition. Types 2 and 3 Gaucher disease are known as neuropathic forms of the disorder because they are characterized by problems that affect the central nervous system. More Information

  • Homocystinuria

    An inherited disorder in which the body cannot process a particular protein building block (amino acid) called Methionine. It can be caused by several different genes. More Information

  • Krabbe Disease

    Krabbe disease (also called globoid cell leukodystrophy) is a degenerative disorder that affects the nervous system. It is caused by the shortage (deficiency) of an enzyme called galactosylceramidase. More Information

  • Niemann-Pick Disease

    Niemann-Pick disease is an inherited condition involving lipid metabolism, which is the breakdown, transport, and use of fats and cholesterol in the body. In people with this condition, abnormal lipid metabolism causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain. More Information

  • Pompe Disease

    Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body’s cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally. There are three types known as classic infantile-onset, non-classic infantile-onset, and late-onset. More Information

  • Propionic acidemia

    An inherited disorder in which the body cannot process a multiple protein building block (amino acid) called Methionine, Threonine, Isoleucine and Valine. More Information

  • sickle-haemoglobin C disease (HB S/C)

    An inherited disorder and variant of sickle cell disease. People with this disorder have atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle (crescent) shape. They also have another abnormal form of hemoglobin, called hemoglobin C, which prevents red blood cells from carrying oxygen effectively. More Information

  • Tyrosinemia I (TYR 1)

    An inherited disorder in which the body cannot process a particular protein building block (amino acid) called Tyrosine. This disorder leads to liver toxins building up that can lead to death if not treated early. There is also Type II and III that are milder. More Information

  • Tyrosinemia Type II

    An inherited disorder which affects the second enzyme in the body cannot process a particular protein building block (amino acid) called Tyrosine. This form of the disorder can affect the eyes, skin, and mental development. More Information

  • Tyrosinemia Type III

    An inherited disorder which affects the third enzyme in the body cannot process a particular protein building block (amino acid) called Tyrosine. Characteristic features include intellectual disability, seizures, and periodic loss of balance and coordination. More Information

  • X-linked Severe Combined Immunodeficiency ( X-linked SCID)

    X-linked severe combined immunodeficiency (SCID) is an inherited disorder of the immune system that occurs almost exclusively in males. Boys with X-linked SCID are prone to recurrent and persistent infections caused by certain bacteria, viruses, and fungi. The organisms that cause these infections are described as opportunistic because they ordinarily do not cause illness in healthy people. However, in people with X-linked SCID they cause very serious or life-threatening illnesses. Many infants with X-linked SCID experience chronic diarrhea and skin rashes, and grow more slowly than other children. Without treatment, affected males usually do not live beyond infancy. More Information

  • ZAP70-RELATED SEVERE COMBINED IMMUNODEFICIENCY

    ZAP70-related severe combined immunodeficiency (SCID) is an inherited disorder that damages the immune system. ZAP70-related SCID is one of several forms of severe combined immunodeficiency, a group of disorders with several genetic causes. Children with SCID lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. Often the organisms that cause infection in people with this disorder are described as opportunistic because they ordinarily do not cause illness in healthy people. Infants with SCID typically experience pneumonia, chronic diarrhea, and widespread skin rashes. They also grow much more slowly than healthy children. If not treated in a way that restores immune function, children with SCID usually live only a year or two. More Information

Resources

FAQs – Pregnant Families

FAQs – Initial Positive Screens

FAQs – Bloodspots

Videos

Families with Diagnoses

Disorder Descriptions

For Practitioners