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Metabolic Disorders

Metabolic disorders occur when the body is not able to break down (metabolize) certain substances in food like fats, proteins, or sugars. These substances can build up in the body and cause serious health problems, which can be prevented with early treatment. 

There are 15 disorders:

Babies with these inherited disorders are unable to process certain amino acids found in protein containing foods. They are also unable to remove some types of wastes (ammonia) from their bodies. These harmful substances build up in the blood. Babies with CIT or ASA may appear normal at birth. If untreated, they will start to show signs such as vomiting, muscle weakness, breathing problems, brain damage, coma and even death. If CIT and ASA are found through newborn screening, treatment with a special diet, medical formula and medicines can begin early. Many children with CIT and ASA that are treated early develop normally. One baby in 60,000 in BC is born with CIT or ASA. 

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Babies with these inherited disorders are unable to process certain proteins and other substances in food. Harmful substances build up in the blood and urine and cause problems. If untreated, this may cause vomiting, weight loss, kidney and pancreas problems and mental disabilities. Bouts of severe illness called metabolic acidosis may lead to seizures, coma and even death. The earlier treatment is started, the better the outcome. One baby in 75,000 in BC is born with Cbl A, B or MUT.


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Babies with this inherited disorder are unable to process certain amino acids (lysine, hydroxylysine, tryptophan and others) found in protein containing foods. When babies with GA 1 eat food containing these amino acids, harmful substances build up in their blood and urine. Babies with GA-1 appear normal at birth but start to show problems between two months and four years of age. If untreated, GA-1 can cause bouts of severe illness called metabolic crises. These may lead to seizures, coma and even death. Screening allows babies with GA 1 to be found early and treated with a special diet, medical formula and supplements. Frequent feeds (avoid fasting) is also important. Children with GA 1 often live healthy lives and grow normally. One baby in 120,000 in BC is born with GA 1.


Babies with this inherited disorder are unable to process a type of sugar that is found in milk called galactose. When a baby eats food with galactose, galactose and other harmful substances build up in the blood and urine and cause severe damage to the brain, eyes, liver and kidneys. Babies found to have GALT through screening can be treated early with a special diet. Children who start the diet as babies and stay on the diet are less likely to have problems. One baby in 40,000 in BC is born with galactosemia.


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Homocystinuria and hypermethioninemias are inherited disorders in which the body is unable to process an amino acid called methionine (found in protein containing foods).  Homocystine, methionine and/or other harmful substances build up in the body.  Babies appear normal at birth. If untreated, HCy can cause delays in development, eye problems, blood clots and bone problems.  H-Met represents a group of disorders that can lead to delays in development or liver problems is untreated, although some mild forms not requiring treatment can be detected by the screening test. For those requiring treatment, a special diet, medical formula and supplements starting at an early age can reduce the chance of developmental delays.  One baby in 45, 000 is born with HCy or H-Met.


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Babies with this inherited disorder are unable to process an amino acid called leucine (found in protein containing foods). When a baby eats food with leucine, harmful substances build up in the blood and urine and cause problems. Babies usually appear normal at birth. If untreated, IVA can cause bouts of severe illness called metabolic crises. These may lead to seizures, coma and even death. Screening allows babies with IVA to be found early and treated with a special diet and medical formula. Frequent feeds (avoid fasting) is also important. Early treatment can help prevent episodes of metabolic crises and the resulting health effects. Children with IVA can often live healthy lives and grow normally. One baby in 100,000 to 200,000 in BC is born with IVA.


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LCHAD is an inherited disorder in which the body has problems breaking down fats to make energy. When the body cannot use fat for energy, it must rely on glucose only. Although glucose is a good source of energy, there is a limited amount available. Babies with LCHAD appear normal at birth. They are at risk though for low blood sugar which can lead to coma or sudden unexpected death. Low muscle tone or heart problems in children with LCHAD are common. Frequent feeds (avoid fasting) and a special diet can improve health outcomes. One baby in 80,000 is born with LCHAD.

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Babies with this inherited disorder are unable to process three amino acids (leucine, isoleucine and valine) found in protein containing foods. Babies usually appear normal at birth. If untreated, they may start to have problems such as poor sucking and poor feeding with weight loss and vomiting. Seizures, coma and even death may follow. Screening means that babies with MSUD can be found early and treated with a special diet and medical formula. Most children with MSUD that are treated early develop normally. One baby in 185,000 in BC is born with MSUD. 

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Babies with this inherited disorder have problems breaking down fats in their food to make energy for the body. When the body cannot use fat for energy, it must rely on glucose only. Although glucose is a good source of energy, there is a limited amount available. Babies with MCAD appear normal at birth. They are at risk though for low blood sugar which can lead to coma or sudden unexpected death. Frequent feeds (avoid fasting) and a special diet can improve health outcomes. One baby in 12,000 in BC is born with MCAD.


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Babies with this inherited disorder are unable to process an amino acid in their food called phenylalanine. Phenylalanine and other harmful substances build up in the blood. Babies appear normal at birth. If untreated, they will develop serious, irreversible mental disabilities. Screening means that babies with PKU can be found early and treated with a special diet which will prevent severe disability and allow them to lead a normal life. If babies are not screened, but are later found to have PKU, it may be too late for the special diet to make a difference. One baby in 12,000 in BC is born with PKU.

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Babies with this inherited disorder are unable to process certain amino acids (isoleucine, valine, methionine, and threonine) found in protein containing foods. Harmful substances build up in the blood and cause problems. If untreated, this may cause vomiting, weight loss, seizures, coma and even death. If PROP is found early through screening, babies can be treated early with a special diet and medical formula. Babies who have early treatment may have normal growth and development. The earlier treatment is started, the better the outcome. One baby in 50,000 in BC is born with PROP.

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Babies with Tyr I are unable to process an amino acid called tyrosine found in protein containing foods. If untreated, tyrosine and other harmful substances build up in the baby's blood and cause serious liver and kidney damage. This may result in vomiting, diarrhea, bruising, swelling of the legs or stomach and problems with the bones and nerves. Babies appear normal at birth. Screening allows babies with Tyr 1 to be found early and treated with a special diet, medical formula and medicines. When treatment is started early, severe liver and kidney problems can be prevented. Children who are treated usually have normal growth and intelligence. One baby in 100,000 in BC is born with Tyr I.

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VLCAD is an inherited disorder in which the body has problems breaking down fats to make energy. When the body cannot use fat for energy, it must rely on glucose (sugar) only. Although glucose is a good source of energy, there is a limited amount available. Babies may appear normal at birth. They are at risk for low blood sugar which can lead to coma or sudden unexpected death. Low muscle tone or heart problems in children with VCHAD are common. Frequent feeds (avoid fasting) and a special diet can improve health outcomes. One baby in 50,000 to 120,000 in BC is born with VLCAD.


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CUD is an inherited disorder in which the body has problems breaking down fats to make energy.  When the body cannot use fat for energy, it must rely on glucose only.  Although glucose is a good source of energy, there is a limited amount available.  Babies with CUD appear normal at birth.  They are at risk though for low blood sugar which can lead to coma or sudden unexpected death. As children with CUD get older, they are at risk of muscle pain and heart problems as well.  Sometimes newborn screening will uncover CUD in the mothers of infants.  Dietary supplementation with carnitine and avoidance of fasting can improve outcomes.  One baby in 45,000 is born with CUD.


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GAMT deficiency is an inherited disorder in the creation of creatine in the body.  Creatine is required for immediate energy needs in the body, particularly in the brain.  Babies with GAMT appear normal at birth but can have developmental delays and/or seizures if not treated.  Early treatment with creatine supplementation and a special diet can improve outcomes.  Approximately one baby in 300,000 is born with GAMT deficiency.


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