Phenylketonuria (commonly known as 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.
What are the symptoms of PKU?
The signs and symptoms of PKU vary from mild to severe.
The most severe form of this disorder is known as classic PKU.
Infants with classic PKU appear normal until they are a few months old.
Without treatment with a special low-phenylalanine diet, these children develop permanent intellectual disability.
Seizures, delayed development, behavioral problems, and
psychiatric disorders are also common.
Untreated individuals may have a musty or mouse-like odor as a side effect of excess phenylalanine in the body.
Children with classic PKU tend to have lighter skin and hair than unaffected family members and are also likely to have skin disorders such as
eczema.
Less severe forms of this condition, sometimes called
variant PKU and non-PKU hyperphenylalaninemia, have a smaller risk of brain
damage. People with very mild cases may not require treatment with a low-phenylalanine diet.
Babies born to mothers with PKU and uncontrolled
phenylalanine levels (women who no longer follow a low-phenylalanine diet) have
a significant risk of intellectual disability because they are exposed to very
high levels of phenylalanine before birth.
These infants may also have a low
birth weight and grow more slowly than other children.
Other characteristic
medical problems include heart defects or other heart problems, an abnormally small head size (microcephaly), and behavioral problems.
Women with PKU and uncontrolled phenylalanine levels also have an increased risk of
pregnancy loss.
Eczema, also known as dermatitis, is a general term for many types of skin inflammation. The most common form of eczema is atopic dermatitis. The other forms of eczema include: contact eczema, seborrheic eczema, Nummular eczema, Neurodermatitis, stasis dermatitis, and dyshidrotic eczema. Symptoms, diagnosis, and treatment of eczema may vary from person to person and may depend on the type of eczema.
A miscarriage is any pregnancy that ends spontaneously before the fetus can survive. Miscarriage usually occurs before the 13th week of pregnancy. The cause of a miscarriage cannot always be determined. The most common causes of a miscarriage in the first trimester are collagen vascular disease (lupus), hormonal problems, diabetes, chromosomal abnormalities, and congenital abnormalities of the uterus.
Epilepsy is a brain disorder in which the person has seizures. There are two kinds of seizures, focal and generalized. There are many causes of epilepsy. Treatment of epilepsy (seizures) depends upon the cause and type of seizures experienced.
Genetic disease is a disorder or condition caused by abnormalities in a person's genome. Types of genetic inheritance include single inheritance (for example, cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis), multifactoral inheritance, chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
Birth defects have many causes and currently, are the leading cause of death for infants in the first year of life. Some of the causes of birth defects include genetic or chromosome problems. Exposure of the mother to rubella or German measles during pregnancy, or using drugs or alcohol during pregnancy. The treatment for birth defects depends upon the condition of the effected child.
Seizures are divided into two categories: generalized and partial. Generalized seizures are produced by electrical impulses from throughout the brain, while partial seizures are produced by electrical impulses in a small part of the brain. Seizure symptoms include unconsciousness, convulsions, and muscle rigidity.
Pregnancy planning is important to help prevent exposure of the mother and fetus to potentially harmful medications and substances during the early days, and throughout the pregnancy. Nutritional planning, prevention of birth defects, conditions such as high blood pressure, heart disease, diabetes, and kidney disease need careful monitoring. Gestational diabetes, preeclampsia, and pregnancy induced hypertension are conditions that may arise during pregnancy. Immunizations, inherited disorders, exercise, air travel, intercourse, and birth control are important factors to consider when planning a pregnancy.
Microcephaly is a genetic condition where the circumference of the head is smaller than normal due to underdeveloped brain. Microcephaly is caused by genetic abnormalities, or from abuse of alcohol, drugs, infection (for example, German measles or chickenpox), exposure to toxins, or PKU while the mother is pregnant. Symptoms of microcephaly depend upon the severity of the accompanying syndrome. There is not treatment for microcephaly.
Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.
Tetrahydrobiopterin deficiency is a rare genetic disorder that increases the levels of phenylalanine and several other substances in the blood, at birth. Symptoms of Tetrahydrobiopterin deficiency include movement disorders, difficulty swallowing, seizures, and more. Causes of tetrahydrobiopterin deficiency can be from mutations of several genes including GCH1, PCBD1, PTS, and QDPR. Tetrahydrobiopterin deficiency is an inherited condition in an autosomal resessive pattern.
There are six types of generalized seizures. The most common and dramatic, and therefore the most well known, is the generalized convulsion, also called the grand-mal seizure. In this type of seizure, the patient loses consciousness and usually collapses. The loss of consciousness is followed by generalized body stiffening (called the "tonic" phase of the seizure) for 30 to 60 seconds, then by violent jerking (the "clonic" phase) for 30 to 60 seconds, after which the patient goes into a deep sleep (the "postictal" or after-seizure phase). During grand-mal seizures, injuries and accidents may occur, such as tongue biting and urinary incontinence.
Absence seizures cause a short loss of consciousness (just a few seconds) with few or no symptoms. The patient, most often a child, typically interrupts an activity and stares blankly. These seizures begin and end abruptly and may occur several times a day. Patients are usu...
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