Conditions Covered by the Bill

Chronic Intestinal Pseudo-obstruction

Chronic intestinal pseudo-obstruction (CIP) is a rare, potentially disabling gastrointestinal disorder characterized by abnormalities affecting the involuntary, coordinated muscular contractions (a process called peristalsis) of the gastrointestinal (GI) tract. Peristalsis propels food and other material through the digestive system under the control of nerves, pacemaker cells and hormones. CIP usually results from abnormalities affecting the muscles or nerves that are involved in peristalsis. Consequently, peristalsis becomes altered and inefficient. The symptoms of CIP resemble those caused by mechanical obstruction of the small bowel.

Malabsorption due to liver or pancreatic disease

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The main role of your small intestine is to absorb nutrients from the food you eat into your bloodstream. Malabsorption syndrome refers to a number of disorders in which the small intestine can’t absorb enough of certain nutrients and fluids. These nutrients can be macronutrients (proteins, carbohydrates, and fats), micronutrients (vitamins and minerals), or both.

Short Bowel Syndrome (SBS)

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Short Bowel Syndrome (SBS), a type of intestinal failure, occurs when a significant portion of the intestine is absent. Most cases of SBS occur because a significant part of the intestine was surgically removed. Complications often include dehydration, malnutrition, electrolyte disturbances, vitamin deficiencies and poor growth; intravenous (TPN) and enteral therapy therefore need careful management to prevent these adverse outcomes

3-Hydroxy-3-methyglutaric aciduria

3-hydroxy-3-methylglutaryl-CoA lyase deficiency (also known as HMG-CoA lyase deficiency) is an uncommon 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 compounds that are used for energy during periods without food (fasting).

The signs and symptoms of HMG-CoA lyase deficiency usually appear within the first year of life. The condition causes episodes of vomiting, diarrhea, dehydration, extreme tiredness (lethargy), and weak muscle tone (hypotonia). During an episode, blood sugar levels can become dangerously low (hypoglycemia), and a buildup of harmful compounds can cause the blood to become too acidic (metabolic acidosis). If untreated, the disorder can lead to breathing problems, convulsions, coma, and death. Episodes are often triggered by an infection, fasting, strenuous exercise, or other types of stress.

3-Methylcrotonyl-CoA carboxylase deficiency

3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have a shortage of an enzyme that helps break down proteins containing a particular building block (amino acid) called leucine.

Infants with 3-MCC deficiency appear normal at birth but usually develop signs and symptoms in infancy or early childhood. The characteristic features of this condition, which can range from mild to life-threatening, include feeding difficulties, recurrent episodes of vomiting and diarrhea, excessive tiredness (lethargy), and weak muscle tone (hypotonia). If untreated, this disorder can lead to delayed development, seizures, and coma. Many of these complications can be prevented with early detection and lifelong management with a low-protein diet and appropriate supplements. Some people with gene mutations that cause 3-MCC deficiency never experience any signs or symptoms of the condition.

Argininosuccinic aciduria

Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.

Argininosuccinic aciduria usually becomes evident in the first few days of life. An infant with argininosuccinic aciduria may be lacking in energy (lethargic) or unwilling to eat, and have poorly controlled breathing rate or body temperature. Some babies with this disorder experience seizures or unusual body movements, or go into a coma. Complications from argininosuccinic aciduria may include developmental delay and intellectual disability. Progressive liver damage, skin lesions, and brittle hair may also be seen.

Biotinidase deficiency

Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. If this condition is not recognized and treated, its signs and symptoms typically appear within the first few months of life, although it can also become apparent later in childhood.

Profound biotinidase deficiency, the more severe form of the condition, can cause seizures, weak muscle tone (hypotonia), breathing problems, hearing and vision loss, problems with movement and balance (ataxia), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis. Affected children also have delayed development. Lifelong treatment can prevent these complications from occurring or improve them if they have already developed.

Carbamoyl phosphate synthestase deficiency

Carbamoyl phosphate synthetase I deficiency is an inherited disorder that causes ammonia to accumulate in the blood (hyperammonemia). Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The brain is especially sensitive to the effects of excess ammonia.

In the first few days of life, infants with carbamoyl phosphate synthetase I deficiency typically exhibit the effects of hyperammonemia, which may include unusual sleepiness, poorly regulated breathing rate or body temperature, unwillingness to feed, vomiting after feeding, unusual body movements, seizures, or coma. Affected individuals who survive the newborn period may experience recurrence of these symptoms if diet is not carefully managed or if they experience infections or other stressors. They may also have delayed development and intellectual disability.

In some people with carbamoyl phosphate synthetase I deficiency, signs and symptoms may be less severe and appear later in life.

Carnitine uptake defect/carnitine transport defect

Carnitine Uptake Deficiency (CUD) is a fatty acid oxidation (FAO) disorder caused by a defect in the carnitine transporter that moves carnitine across the
plasma membrane. Reduced carnitine limits acylcarnitine formation preventing transport of long-chain fatty
acids into mitochondria, thereby limiting energy production. Tissues with high energy needs (skeletal and
heart muscle) are particularly affected. All individuals with Primary Carnitine Deficiency are at risk for heart failure, liver problems, coma, and sudden death.

Citrullinemia

Citrullinemia is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. Two types of citrullinemia have been described; they have different signs and symptoms and are caused by mutations in different genes.

Type I citrullinemia (also known as classic citrullinemia) usually becomes evident in the first few days of life. Affected infants typically appear normal at birth, but as ammonia builds up, they experience a progressive lack of energy (lethargy), poor feeding, vomiting, seizures, and loss of consciousness. Some affected individuals develop serious liver problems. The health problems associated with type I citrullinemia are life-threatening in many cases.

Type II citrullinemia chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. Affected individuals often have specific food preferences, preferring protein-rich and fatty foods and avoiding carbohydrate-rich foods. The signs and symptoms of this disorder typically appear during adulthood (adult-onset) and can be triggered by certain medications, infections, surgery, and alcohol intake. These signs and symptoms can be life-threatening in people with adult-onset type II citrullinemia.

CYSTIC FIBROSIS

Cystic fibrosis is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time. In people with CF, a defective gene causes a thick, sticky buildup of mucus in the lungs, pancreas, and other organs. In the lungs, the mucus clogs the airways and traps bacteria leading to infections, extensive lung damage, and eventually, respiratory failure. In the pancreas, the mucus prevents the release of digestive enzymes that allow the body to break down food and absorb vital nutrients.

Glutaric acidemia type

Glutaric acidemia type I (GA-1) is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have inadequate levels of an enzyme that helps break down the amino acids lysine, hydroxylysine, and tryptophan, which are building blocks of protein. Excessive levels of these amino acids and their intermediate breakdown products can accumulate and cause damage to the brain, particularly the basal ganglia, which are regions that help control movement. Intellectual disability may also occur.

Holocarboxylase synthase deficiency

Holocarboxylase synthetase deficiency is an inherited disorder in which the body is unable to use the vitamin biotin effectively. This disorder is classified as a multiple carboxylase deficiency, a group of disorders characterized by impaired activity of certain enzymes that depend on biotin.

The signs and symptoms of holocarboxylase synthetase deficiency typically appear within the first few months of life, but the age of onset varies. Affected infants often have difficulty feeding, breathing problems, a skin rash, hair loss (alopecia), and a lack of energy (lethargy). Immediate treatment and lifelong management with biotin supplements may prevent many of these complications. If left untreated, the disorder can lead to delayed development, seizures, and coma. These medical problems may be life-threatening in some cases.”

Homocystinuria

Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. The most common form of homocystinuria is characterized by nearsightedness (myopia), dislocation of the lens at the front of the eye, an increased risk of abnormal blood clotting, and brittle bones that are prone to fracture (osteoporosis) or other skeletal abnormalities. Some affected individuals also have developmental delay and learning problems. Less common forms of homocystinuria can cause intellectual disability, failure to grow and gain weight at the expected rate (failure to thrive), seizures, problems with movement, and a blood disorder called megaloblastic anemia

Isovaleric acidemia

Isovaleric acidemia (IVA) is a rare disorder in which the body is unable to process certain proteins properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems.

Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency

Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare fatty acid oxidation (FAO) disorder that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). LCHAD is associated with high mortality unless treated promptly. Signs and symptoms of LCHAD deficiency typically appear during infancy or early childhood and can include feeding difficulties, lack of energy (lethargy), low blood sugar (hypoglycemia), weak muscle tone (hypotonia), liver problems, and abnormalities in the light-sensitive tissue at the back of the eye (retina). Later in childhood, people with this condition may experience muscle pain, breakdown of muscle tissue, and a loss of sensation in their arms and legs (peripheral neuropathy). Individuals with LCHAD deficiency are also at risk for serious heart problems, breathing difficulties, coma, and sudden death.

Maple syrup urine disease

Maple syrup urine disease (MSUD) is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the distinctive sweet odor of affected infants’ urine. It is also characterized by poor feeding, vomiting, lack of energy (lethargy), abnormal movements, and delayed development. If untreated, maple syrup urine disease can lead to seizures, coma, and death.

Medium-chain acyl-CoA dehydrogenase deficiency

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a fatty acid oxidation (FAO) disorder that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). People with MCAD deficiency are at risk of serious complications such as seizures, breathing difficulties, liver problems, brain damage, coma, and sudden death.

Methylmalonic acidemia (cobalamin disorders)

Methylmalonic acidemia (MMA) is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly. The effects of methylmalonic acidemia, which usually appear in early infancy, vary from mild to life-threatening. Affected infants can experience vomiting, dehydration, weak muscle tone (hypotonia), developmental delay, excessive tiredness (lethargy), an enlarged liver (hepatomegaly), and failure to gain weight and grow at the expected rate (failure to thrive). Long-term complications can include feeding problems, intellectual disability, chronic kidney disease, and inflammation of the pancreas (pancreatitis). Without treatment, this disorder can lead to coma and death in some cases.

Methylmalonic acidemia (methylmalonyl-CoA mutase)

Methylmalonic acidemia (MMA) is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly. The effects of methylmalonic acidemia, which usually appear in early infancy, vary from mild to life-threatening. Affected infants can experience vomiting, dehydration, weak muscle tone (hypotonia), developmental delay, excessive tiredness (lethargy), an enlarged liver (hepatomegaly), and failure to gain weight and grow at the expected rate (failure to thrive). Long-term complications can include feeding problems, intellectual disability, chronic kidney disease, and inflammation of the pancreas (pancreatitis). Without treatment, this disorder can lead to coma and death in some cases.

N-acetyl glutamate synthase deficiency

N-acetylglutamate synthase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.

N-acetylglutamate synthase deficiency may become evident in the first few days of life. An infant with this condition may be lacking in energy (lethargic) or unwilling to eat, and have a poorly controlled breathing rate or body temperature. Some babies with this disorder may experience seizures or unusual body movements, or go into a coma. Complications of N-acetylglutamate synthase deficiency may include developmental delay and intellectual disability.

In some affected individuals, signs and symptoms of N-acetylglutamate synthase deficiency are less severe, and do not appear until later in life. Some people with this form of the disorder cannot tolerate high-protein foods such as meat. They may experience sudden episodes of ammonia toxicity, resulting in vomiting, lack of coordination, confusion or coma, in response to illness or other stress.

Ornithine transcarbamylasedeficiency

Ornithine transcarbamylase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. Ornithine transcarbamylase deficiency can become evident at any age from infancy to adulthood in both males and females. The most severe form causes catastrophic elevations of ammonia in the blood in the first few days of life. An infant with the neonatal-onset form of ornithine transcarbamylase deficiency may be lethargic or unwilling to eat, and have a poorly-controlled breathing rate or body temperature. Infants with this severe form of the disorder may be described as “floppy” and can experience seizures or coma. The late-onset form of the disorder occurs at any age outside the newborn period. Children and adults with late-onset ornithine transcarbamylase deficiency may experience episodes of altered mental status, such as delirium, erratic behavior, or a reduced level of consciousness. Headaches, vomiting, aversion to protein foods, and seizures can also occur in this form of the disorder. The effects of ornithine transcarbamylase deficiency may include developmental delay and intellectual disability. Progressive liver damage may also occur. In some mildly-affected individuals, signs and symptoms of ornithine transcarbamylase deficiency may be less severe, and may not appear until later in life.

Phenylketonuria (PKU)

Phenylketonuria (PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners. If PKU is not treated, phenylalanine can build up to harmful levels in the body, causing intellectual disability and other serious health problems.

Propionic acidemia

Propionic acidemia (PA) is an inherited disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems.

Trifunctional protein deficiency

Trifunctional protein (TFP) deficiency is a fatty acid oxidation (FAO) disorder associated with high mortality unless treated promptly. Hallmark features include hepatomegaly, cardiomyopathy, lethargy, hypoketotic hypoglycemia, elevated liver transaminases, elevated creatine phosphokinase (CPK), lactic acidosis, and failure to thrive. Rhabdomyolysis (a serious and sometimes fatal complication) may occur.

Tyrosinemia

Tyrosinemia (TYR) is a genetic disorder characterized by disruptions in the multistep process that breaks down the amino acid tyrosine, a building block of most proteins. If untreated, tyrosine and its byproducts build up in tissues and organs, which can lead to serious health problems.

There are three types of tyrosinemia, which are each distinguished by their symptoms and genetic cause. Tyrosinemia type I, the most severe form of this disorder, is characterized by signs and symptoms that begin in the first few months of life. Affected infants fail to gain weight and grow at the expected rate (failure to thrive) due to poor food tolerance because high-protein foods lead to diarrhea and vomiting. Affected infants may also have yellowing of the skin and whites of the eyes (jaundice), a cabbage-like odor, and an increased tendency to bleed (particularly nosebleeds). Tyrosinemia type I can lead to liver and kidney failure, softening and weakening of the bones (rickets), and an increased risk of liver cancer (hepatocellular carcinoma). Some affected children have repeated neurologic crises that consist of changes in mental state, reduced sensation in the arms and legs (peripheral neuropathy), abdominal pain, and respiratory failure. These crises can last from 1 to 7 days. Untreated, children with tyrosinemia type I often do not survive past the age of 10.

Tyrosinemia type II can affect the eyes, skin, and mental development. Signs and symptoms often begin in early childhood and include eye pain and redness, excessive tearing, abnormal sensitivity to light (photophobia), and thick, painful skin on the palms of their hands and soles of their feet (palmoplantar hyperkeratosis). About 50 percent of individuals with tyrosinemia type II have some degree of intellectual disability.

Tyrosinemia type III is the rarest of the three types. The characteristic features of this type include intellectual disability, seizures, and periodic loss of balance and coordination (intermittent ataxia).

Very long-chain acyl-CoA dehydrogenase deficiency

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a fatty acid oxidation (FAO) disorder that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of VLCAD deficiency typically appear during infancy or early childhood and can include low blood sugar (hypoglycemia), lack of energy (lethargy), and muscle weakness. Affected individuals are also at risk for serious complications such as liver abnormalities and life-threatening heart problems. When symptoms begin in adolescence or adulthood, they usually involve muscle pain and the breakdown of muscle tissue (rhabdomyolysis). VLCAD is associated with high mortality unless treated promptly; milder variants exist. Features of severe VLCAD deficiency in infancy include hepatomegaly, cardiomyopathy and arrhythmias, lethargy, hypoketotic hypoglycemia, and failure to thrive.

Eosinophilic Disorders

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Eosinophilic esophagitis (EoE) is an inflammatory condition in which eosinophils (a certain type of white blood cell) infiltrate the esophageal wall. This typically occurs in response to foods or aeroallergens. Typical symptoms include difficulty swallowing, pain, nausea, regurgitation, and vomiting. Over time, the disease can cause the esophagus to narrow (a stricture), which can result in food impaction and require emergency removal.

EOSINOPHILIC GASTROINTESTINAL DISORDER (EGID)

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Eosinophil-associated gastrointestinal disease such as eosinophilic esophagitis, gastritis, gastroenteritis and colitis (collectively known as “EGIDs”) are a chronic and complex group of diseases characterized by having above normal amounts of eosinophils, a type of white blood cell, in one or more specific locations in the digestive system. Accumulation of these cells cause inflammation and damage to the surrounding tissues and organs. While symptoms may vary among EGID subsets, common shared symptoms include abdominal pain, diarrhea, fatigue, nausea, poor growth, bloating, and vomiting. Patients may also have difficulty with feeding, tolerating foods, and/or gaining weight. There are no FDA approved therapies for EGIDs; the two main treatments are dietary therapy and medications (e.g., off-label use of steroids).

FPIES

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FPIES is a type of food allergy that affects the gastrointestinal tract. Classic FPIES reactions typically occur two or more hours after ingesting the “trigger” food and typically involve profuse vomiting, diarrhea, and can progress to shock. Reactions can be severe and require immediate medical attention. Chronic FPIES reactions are typically characterized by increasingly severe/intermittent vomiting, chronic diarrhea and possibly progressing to an illness mimicking a severe total-body infection in addition to potentially difficulty gaining or maintaining weight. There are no simple tests to diagnosis FPIES. Additionally, there are no FDA approved therapies for the treatment of FPIES. The main treatments are avoidance of trigger foods with a personalized dietary plan that ensures proper nutrition.

COLITIS

Colitis refers to inflammation of the inner lining of the colon. There are numerous causes of colitis including infection, inflammatory bowel disease (Crohn’s disease, ulcerative colitis), ischemic colitis, allergic reactions, and microscopic colitis. Symptoms of colitis depend upon the cause but typically include diarrhea, bloody diarrhea, and/or abdominal pain.

CROHN’S

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Crohn’s Disease is a type of inflammatory bowel disease (IBD) characterized by inflammation of the gastrointestinal (GI) tract. This inflammation leads to abdominal pain, diarrhea, anemia, and poor growth in children. In many cases, fistulae (abnormal connections between two different organs or between the organ and skin), strictures (abnormally narrowing of the bowel), or abscesses develop. Crohn’s is a life-long condition and requires treatment with enteral nutrition, surgery, or medications.