My friends son had his hydroxyprogesterone levels from his PKU come back slightly elevated. They say he could have CAH. Does anyone or any pediatric nurse know what that means. Im just curious. She couldnt really explain it to me or really didnt know herself what it is, except that both parents have to be carriers of it for the baby to have it. Search Our Site!
Congenital Adrenal Hyperplasia (CAH)
An Endocrine Disorder
What is it?
Congenital Adrenal Hyperplasia (CAH) is caused by a missing enzyme needed for the body to function properly causing overproduction of male hormones. CAH refers to a set of inherited disorders that occurs in both males and females as a result of the excess production of male hormones.
The most common type of CAH results from low production of an enzyme of the adrenal gland called 21-hydroxylase. Mild forms of the disease (called "non-classical") result in symptoms such as severe acne, excess facial and/or body hair, early development of pubic hair, receding scalp hairline, menstrual disturbances in females, and infertility in both males and females. Non-classical CAH occurs in approximately 1 out of 100 people, and as high as 1 in 27 in some ethnic populations. More severe forms of the disorder (called "classical" CAH) can result in ambiguous genitalia in a newborn girl, as well as severe salt and hormonal imbalances in both girls and boys.
Prenatal therapy with a synthetic hormone called dexamethasone throughout pregnancy can allow proper development of the external genitalia in female fetuses. Affected girls are then born with normal external genitalia and do not require corrective surgery. Both classical and non-classical forms are "congenital" which means there is an abnormality in the genes that causes CAH and people are born with it. The classic form initiates while the baby is still forming in the womb and its symptoms are present in the newborn, while the non-classical form is often referred to as "late-onset" CAH because it presents later into infancy, or can even surface in adulthood.
Inheritance and Frequency
CAH occurs in approximately 1 of every 21,500 births.
Signs & Symptoms
Long Term Effects
If not treated, CAH can cause heart failure and death within a few days from birth. Although CAH cannot be cured, but it can be effectively treated.
Treatment
Most forms of congenital adrenal hyperplasia is usually treated by use of medication.
DEFINITION:
Phenylketonuria (PKU) is a genetic disorder that is
characterized by an inability of the body to utilize the
essential amino acid, phenylalanine. Amino acids are the
building blocks for body proteins. 'Essential' amino acids
can only be obtained from the food we eat as our body does
not normally produce them. In 'classic PKU', the enzyme
that breaks down phenylalanine phenylalanine hydroxylase, is
completely or nearly completely deficient. This enzyme
normally converts phenylalanine to another amino acid,
tyrosine. Without this enzyme, phenylalanine and its'
breakdown chemicals from other enzyme routes, accumulate in
the blood and body tissues. Although the term
'hyperphenylalaninemia' strictly means elevated blood
phenylalanine, it is usually used to describe a group of
disorders other than classic PKU. These other disorders may
be caused by a partial deficiency of the phenylalanine
breakdown enzyme or the lack of another enzyme important to
the processing of this amino acid. A normal blood
phenylalanine level is about 1 mg/dl. In classic PKU,
levels may range from 6 to 80mg/dl, but are usually greater
than 30mg/dl. Levels are somewhat less in the other
disorders of hyperphenylalaninemia. Chronically high levels
of phenylalanine and some of its breakdown products can
cause significant brain problems. Classic PKU is the most
common cause of high levels of phenylalanine in the blood
and will be the primary focus of this topic sheet.
INCIDENCE:
Classic PKU and the other causes of hyperphenylalaninemia
affect about one of every 10,000 to 20,000 Caucasian or
Oriental births. The incidence in African Americans is far
less. These disorders are equally frequent in males and
females.
CAUSE:
PKU and the other causes of hyperphenylalaninemia are
inherited in a recessive fashion. This means an affected
person inherited two traits for the disorder (e.s., one from
each parent). A person with one trait for the disorder, is
called a 'carrier' for PKU. Carriers do not have symptoms
of the disorder.
SYMPTOMS:
Infants with PKU appear normal at birth. Many have blue
eyes and fairer hair and skin than other family members.
Currently, most symptoms of untreated PKU are avoided by
newborn screening, early identification, and management.
(see Treatment Section)
The following describes untreated PKU symptoms-currently a
rarity:
About 50% of untreated infants have early symptoms, such as
vomiting, irritability, an eczema-like rash, and a mousy
odor to the urine. Some may also have subtle signs of
nervous system function problems, such as increased muscle
tone, and more active muscle tendon reflexes. Later, severe
brain problems occur, such as mental retardation and
seizures. Other commonly noted features in untreated
children include: microcephaly (small head), prominent
cheek and upper jaw bones with widely spaced teeth, poor
development of tooth enamel, and decreased body growth.
TREATMENT:
Every state now screens the blood phenylalanine level of all
newborns at about 3 days of age. This test is one of
several newborn screening tests performed before or soon
after discharge from the hospital. Usually, a few drops of
blood are obtained by a small prick on the heel, placed on a
card, and then sent for measurement. If the screening test
is abnormal, other tests are needed to confirm or exclude
PKU. Newborn screening allows early identification and
early implementation of treatment.
The goal of PKU treatment is to maintain the blood level of
phenylalanine between 2 and 10 mg/dl. Some phenylalanine is
needed for normal growth. This requires a diet that has
some phenylalanine but in much lower amounts than normal.
High protein foods, such as: meat, fish, poultry, eggs,
cheese, milk, dried beans, and peas are avoided. Instead,
measured amounts of cereals, starches, fruits, and
vegetables, along with a milk substitute are usually
recommended. Phenylalanine free formulas are available for
all age groups. In some clinics, a phenylalanine
'challenge' may be suggested to evaluate whether or not the
child continues to require a low phenylalanine diet. This
test identifies those few persons with a transient or
'variant' form of the disorder. However, most authorities
currently recommend lifelong dietary restriction of
phenylalanine for individuals with classic PKU, in order to
promote maximal development and cognitive abilities. I"m not sure what CAH is, but i know what PKU is. Someone with PKU can't have a certain type of protein found in a majority of foods. Eating these kinds of proteins, one could end up with mental retardation. Someone with PKU has to adhere to a strict diet. And as long as the diet is adhered to, there should be no worry of adverse effects. I've posted a link below |
