- What is Celiac Disease?
- What is Dermatitis Herpetiformis?
- What is a Gluten-Free Diet?
- What is PKU?
- What is Maple Syrup Urine Disease?
What is Celiac Disease?
Celiac Disease (CD) is a lifelong digestive disorder, found in individuals who are genetically susceptible, that results in damage to the small intestine by interfering with the absorption of nutrients. Celiac Disease is unique in that a specific food component, gluten, has been identified as the culprit. Gluten is the common name for the offending proteins in specific cereal grains that are harmful to persons with CD. These proteins are found in all forms of wheat (including durum, semolina, spelt, kamut, einkorn and faro), and related grains; rye, barley, triticale and possibly oats (due to cross-contamination). Damage to the mucosal surface of the small intestine is caused by an immunologically toxic reaction to the ingestion of gluten.
Celiac Sprue and non-tropical Sprue are all different terms for celiac disease.
What is Dermatitis Herpetiformis?
Dermatitis Herpetiformis (DH) is skin manifestation of celiac disease characterized by blistering, intensely itchy skin. The rash has a symmetrical distribution and is most frequently found on the face, elbows, knees and buttocks. DH patients can have gastrointestinal damage without perceptible symptoms.
What is a Gluten-Free Diet?
A Gluten-Free Diet is the only treatment for Celiac Disease (CD) and/or Dermatitis Herpetiformis (DH). It is a life-long committed diet and should not be started before being properly diagnosed with CD/DH. When gluten is removed from the diet, the small intestine will start to heal and overall health improves. Medication is not normally required. Because osteoporosis is common and may be profound in patients with newly diagnosed CD, bone density should be measured at or shortly after diagnosis. Consult your physician regarding specific nutritional supplementation to correct any deficiencies. The diagnosed celiac should have medical follow-up to monitor the clinical response to the gluten-free diet. Dietary compliance increases the quality of life and decreases the likelihood of osteoporosis, intestinal lymphoma and other associated illnesses.
Adapting to the gluten-free diet requires some lifestyle changes. It is essential to read labels which are often imprecise, and to learn how to identify ingredients that may contain hidden gluten.
Be aware that hidden gluten can be found in some unlikely foods such as: cold cuts, soups, hard candies, soy sauce, many low or non-fat products, even licorice and jelly beans.
Potential harmful ingredients include:
- unidentified starch
- modified food starch
- hydrolyzed vegetable protein - HVP
- hydrolyzed plant protein - HPP
- texturized vegetable protein - TVP
Gluten may also be used as a binder in some pharmaceutical products. Request clarification from food and drug manufacturers when necessary.
What is PKU?
Phenylketonuria (PKU) is a genetic inborn error of metabolism that is detectable during the first days of life with appropriate blood testing (newborn screening). The absence or deficiency of an enzyme that is responsible for processing the essential amino acid phenylalanine characterizes PKU. With normal enzymatic activity, phenylalanine is converted to another amino acid (tyrosine), which is then utilized by the body. However, when the phenylalanine hydroxylase enzyme is absent or deficient, phenylalanine abnormally accumulates in the blood and is toxic to brain tissue.
Without treatment, most infants with PKU develop mental retardation. Those with untreated PKU may also develop additional neurologic symptoms.
To prevent mental retardation, treatment consists of a carefully controlled, phe-restricted diet begun during the first days or weeks of life. Most experts suggest that a phe-restricted diet should be lifelong. A carefully maintained diet can prevent mental retardation as well as neurological, behavioral and dermatological problems. It is generally believed that keeping blood phenylalanine levels in the range of 2-6mg/dl is the safest, especially in infancy and early childhood. Frequent blood monitoring should be done to achieve this goal.
PKU is inherited as an autosomal recessive trait. In other words, two people who conceive a child must both be carriers of the gene in order for there to be a chance that their infant will have PKU. When both carriers conceive a child, there is a one in four or 25% chance for each pregnancy that the baby will have PKU. It is estimated that PKU occurs in one in 15,000 newborns in the United States. The incidence varies in other parts of the world. This information is not intended to replace the advice of a metabolic medical professional.
What is Maple Syrup Urine Disease?
Maple Syrup Urine Disease (MSUD) is an inherited metabolic disorder that, if untreated, causes mental retardation, physical disabilities and death. First described as a disease in 1954, it is a rare disorder, believed to be in all ethnic groups worldwide. The national incidence is 1 in 225,000 births.
MSUD derives its name from the sweet, burnt sugar, or maple syrup smell of the urine. The disorder affects the way the body metabolizes (processes) certain components of protein. These components are the three branched-chain amino acids leucine, isoleucine, and valine. These amino acids accumulate in the blood causing a toxic effect that interferes with brain functions. The term, Maple Syrup Urine Disease, includes a range of classic and variant types of the disorder. The symptoms of classic MSUD are usually evident within the first week of life. Variant forms of MSUD are milder, however, the symptoms can be severe during times of illness.
The first symptoms in an infant are poor appetite, irritability, and the characteristic odor of the urine. Within days they lose their sucking reflex and grow listless, have a high-pitched cry, and become limp with episodes of rigidity. Without diagnosis and treatment, symptoms progress rapidly to seizures, coma, and death. In some variant types, failure to thrive may be the first sign. The earlier these children are diagnosed and treated, the less risk of permanent damage.
Information provided by the MSUD Family Support Group, www.msud-support.org.