AMINO ACIDURIAS

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. website
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Hypermethioninemia (MET)

An inherited disorder in which the body cannot process a particular protein building block (amino acid) called Methionine.
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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.
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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.
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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.
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Phenylketonuria (PKU) and HyperPHE

An inherited disorder in which the body cannot process a particular protein building block (amino acid) called Phenylalanine.
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Pyruvate Carboxylase deficiency

An inherited disorder in which the body cannot process a protein building block called amino acids and makes very high lactic acid because of the enzyme deficiency.
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ORGANIC ACIDURIAS

3-methylcrotonyl-CoA carboxylase deficiency (also known as 3-MCC deficiency) (3MCC)

An inherited disorder in which the body is unable to break down a certain amino acid called leucine. People with this disorder either lack of have a poorly working enzyme that helps break down leucine. When someone with 3-MCC eats food containing leucine, it can’t be used and it and other harmful substances can build up in the blood and cause problems.
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3-hydroxy-3-methylglutaryl-CoA lyase deficiency (also known as HMG-CoA lyase deficiency) (HMG)

An inherited disorder in which the body cannot process a particular protein building block (amino acid) called leucine. Additionally, the disorder prevents the body from making ketones, which are used for energy especially during periods without food (fasting) or when sick.
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2-Methyl-3-hydroxybutyric aciduria (2M3HBA)

An inherited disorder in which the body cannot process particular protein building blocks (amino acids) and also fats which are used for energy especially during periods without food (fasting) or when sick.
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2-methylbutyryl-CoA dehydrogenase deficiency (2MGB)

An inherited disorder in which the body cannot process particular protein building blocks (amino acids) and also fats which are used for energy especially during periods without food (fasting) or when sick.
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3-methylglutaconic aciduria (3MGA)

An inherited disorder in which the body cannot process particular protein building blocks (amino acids) which are used for energy especially during periods without food (fasting) or when sick.
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2,4-Dienoyl-CoA reductase deficiency (DE RED)

An inherited disorder associated with hypotonia and respiratory acidosis in infancy. This condition may be associated with the DECR1 gene and likely has an autosomal recessive pattern of inheritance.
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Glutaric acidemia type I (GA-1)

An inherited disorder in which the body cannot process particular protein building blocks (amino acids) called lysine, hydroxylysine, and tryptophan.
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Glutaric acidemia type II (GA-II)

An inherited disorder that prevents to the breakdown of proteins and fats to produce energy.
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Isovaleric acidemia

An inherited disorder in which the body cannot process a particular protein building block (amino acid) called Leucine.
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Isobutyryl-CoA dehydrogenase deficiency (IBD)

An inherited disorder in which the body cannot process a particular protein building block (amino acid) called valine.
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Malonic academia (MAL)

An inherited disorder in which the body cannot convert some fats to energy. This can cause low blood sugar, seizures and affect the heart muscle.
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Methylmalonic acidemia

An inherited disorder in which the body cannot process proteins or fats properly.
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Propionic acidemia

An inherited disorder in which the body cannot process a multiple protein building block (amino acid) called Methionine, Threonine, Isoleucine and Valine.
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FATTY ACID OXIDATION AND KETONE DISORDERS

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.
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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.
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Carnitine-acylcarnitine Translocase deficiency (CACT)

An inherited disorder that prevents the body from using certain fats for energy, particularly during periods without food (fasting) or when sick. This can lead to a build up of ammonia which is toxic to the brain and liver.
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Carnitine Palmitoyltransferase 1A (liver) (CPT IA)

An inherited disorder that prevents carnitine from normally attaching to long-chain fatty acids that is used to make energy in the mitochondria. Mutations in the CPT1A gene severely reduce or eliminate the activity of this enzyme.
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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
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Short-chain acyl-CoA dehydrogenase deficiency (SCAD)

An inherited disorder that prevents the body from converting some fats to energy, particularly during periods without food (fasting) or when sick.
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Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)

An inherited disorder that prevents the body from converting some fats to energy, particularly during periods without food (fasting) or when sick.
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Medium-chain 3-ketoacyl-coa thiolase deficiency (MCKAT)

An inherited disorder that prevents the body from converting certain fats to energy, particularly during periods without food (fasting) or when sick.
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Long-chain Hydroxy acyl-CoA dehydrogenase deficiency (LCHAD)

An inherited disorder that prevents the body from converting some fats to energy, particularly during periods without food (fasting) or when sick.
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Trifunctional Protein deficiency (TFP)

An inherited disorder that prevents the body from converting certain fats to energy, especially during periods without food (fasting) or when sick.
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Very long-chain acyl-CoA dehydrogenase (VLCAD)

An inherited disorder that prevents the body from converting certain fats to energy, particularly during periods without food (fasting) or when sick.
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UREA CYCLE DISORDERS

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.
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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.
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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.
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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.
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DISORDERS OF VITAMINS & COFACTORS

Biotinidase deficiency (BIOT)

An inherited disorder in which the body is unable to use and recycle the vitamin biotin.
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Defects of Biopterin cofactor biosynthesis/ Biopterin cofactor regeneration

An inherited disorder of co-factor for brain chemicals that can be treated by giving the missing co-factor called BH4 or Kuvan.
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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.
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DISORDERS OF SUGAR METABOLISM

3-hydroxyacyl-CoA dehydrogenase deficiency (M/SCHADD)

An inherited disorder of too much Insulin that prevents the body from converting foods to energy properly.
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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.
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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.
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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.
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THYROID/ADRENAL/OTHER GLAND DISORDERS

Congenital Adrenal Hyperplasia (21-hydroxylase deficiency) (CAH)

An inherited disorder caused by mutations in the CYP21A2 gene. All types of 21-hydroxylase deficiency interfere with the production of cortisol and aldosterone.
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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.
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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.
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SICKLE CELL DISEASE

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.
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Variant Hb-pathies (including HB E) (Var Hb)

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Thalassemia Major and Minor Variants

Beta Thalassemia Major

Hemoglobin S/beta Thalassemia (HbSß+)

Alpha Thalassemia (phenotype varies with % Barts Hb)

Hemoglobin CC Disease or Hemoglobin C/Beta Zero Thalassemia (HbC/ߺ Disease)

Hemoglobin C/Beta Plus Thalassemia (HbC/ß+ Disease)

Hemoglobin E/Beta Plus Thalassemia (HbE/B+ Disease)

http://ghr.nlm.nih.gov/condition/beta-thalassemia
http://ghr.nlm.nih.gov/condition/alpha-thalassemia

DISORDERS OF IMMUNE FUNCTION 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.
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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.
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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.
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LYSOMOL STORAGE DISEASES

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.
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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.
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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.
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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.
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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.
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