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Phenylketonuria in Medical Dictionary

Phenylalanine

... make the protein s that form human tissue s. phenylketonuria ( PKU ) ... 6. D- phenylalanine derivatives ... people that have a rare genetic order called phenylketonuria , also known as PKU . - L-dopa (L-dihydroxy ... One of the best known examples of this is phenylketonuria ( PKU ). This is an genetic error in ...

Phenylketonuria

... phenylketonuria ( PKU ) is inherited as an autosomal recessive ... gene for the child to be affected). phenylketonuria is a type of birth defect a child inherits ... parents, who pass along the abnormal gene . phenylketonuria , maternal: See Maternal ...

Pku

... PKU : Short for phenylketonuria . See: phenylketonuria . Search All of MedicineNet For: search help Printer-Friendly Format ... More on Pku phenylketonuria - inherited metabolic disorder caused by the ...

Circumcision

... Bottle- Feeding , Breast-Feeding , Circumcision , Crying , Age 3 and Younger, Immunizations , Jaundice in Newborns (Hyperbilirubinemia), phenylketonuria ( PKU ), Rash , Age 11 and Younger, Scalp Problems, Shaken Baby Syndrome , ... Ciliary Body Cimetidine (H2 Receptor Antagonists) Cinfacrom ...

Drug

... Drug Administration (FDA) to be safe for use by almost all people. The exception is for those very rare people who are born with a condition called phenylketonuria ( PKU ). Allergic vasculitis is hypersensitivity to a drug or foreign agent that leads to inflammation and damage to blood vessels of the ...

Encephalitis

... nausea , vomiting , and nervous system problems. Several types of opportunistic infections can cause encephalitis . encephalitis untreated phenylketonuria The severity of the condition varies between individuals, ranging from the most severe (extremely unusual, repetitive, self- injurious, and ...

Fetus

... fetus has an increased risk for developing a congenital heart defect when the mother has one of the following medical conditions: 4 Diabetes phenylketonuria (back to top) ... If fetus mature, consider delivery for fetal indications. If immature, repeat BPP within 24 hours 6/10 abnormal AFV High ...

Galactose

... weeks of age. The most common newborn screening tests in the U.S. include those for hypothyroidism (underactivity of the thyroid gland ) , PKU ( phenylketonuria ), galactose mia , ... ...

Galactosemia

... defect, to what Garrod called an "inborn error of metabolism ." Today, newborns are routinely screened for certain enzyme defects such as PKU ( phenylketonuria ) and galactosemia , ... Other factors which can potentiate jaundice in the newborn include: sepsis , biliary atresia , Rh incompatibility, ...

Ketones

... including CBC and blood chemistry (chem-20) Urine analysis for ketones and severity of dehydration Pregnancy test s ... untreated phenylketonuria , a problem in the body's ability to handle certain chemicals named phenyl ketones lack of oxygen during birth encephalitis or other serious ...

Mental retardation

... metabolic defects cause mental retardation that can prevented with prompt treatment of the newborn. One of the best known examples of this is phenylketonuria ( PKU ). Other problems include a small brain ( microcephaly ) or other problems of the nervous system that can cause deafness , mental ...

Metabolize

... if small amounts get through, they are normally taken up by renal tubular cells which then metabolize the protein s as a source of energy. phenylketonuria ( PKU ) - PKU is an inherited disease in which the body cannot metabolize a protein c alled phenylalanine . It is estimated that one baby in ...

Osteogenesis imperfecta

... ... Mucopolysaccharidosis (MPS), a series of carbohydrate storage disorders Osteogenesis imperfecta (brittle bone disease ) phenylketonuria ( PKU ), a disease for which newborns are tested Sickle cell disease . the most common genetic disease in Blacks ... ...

Phimosis

... Using tobacco products. Normal appearance (for people of Asiatic descent and some non-Asian infants ) Down syndrome Turner syndrome phenylketonuria ( PKU ) Williams syndrome Noonan syndrome Rubinstein-Taybi syndrome Blepharo phimosis syndrome ... Para myotonia Congenita ...

Rett syndrome

... in clinical genetics ), particularly as there are several genetic syndrome s which may cause autism , including Fragile-X, untreated phenylketonuria ( PKU ), neurofibromatosis , tuberous sclerosis , Rett syndrome , ... Autism is also called the Kanner syndrome . See also Asperger ...

Viral Infections

... by a rash of small red bumps. Viral infections , such as German measles , can produce congenital heart disease . Women with diabetes and phenylketonuria (an inherited liver condition also called PKU ) also are at higher risk of having children with congenital heart defects. Pericarditis ...
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