Galactose metabolism malfunctions in the rare hereditary disease known as galactosemia. Galactose builds up in the body tissues and blood due to this failure.
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The breakdown of lactose into glucose and galactose produces galactose. A sugar called lactose can be found in milk from cows, humans, and infant formula. Additionally, it can be found in fruits and vegetables like tomatoes, apples, and bananas. Galactose is converted by the body to glucose to produce energy in healthy individuals.
Your baby appears healthy at delivery, but symptoms brought on by consuming human milk start to show up a few days later (that contains lactose). Your infant will become lethargic and complain of ascites, vomiting, jaundice, hepatomegaly, and proteinuria. He might also express complaints of weakness, edema, irritability, diarrhea, and growth failure. Your child could experience physical and mental retardation if he doesn't receive early treatment. He might also experience neurological issues and learning challenges. Speech, language, reading, and motor skills are among the learning disabilities, and ataxia, dysmetria, and tremors are among the neurological symptoms. The girls may complain of ovarian dysfunction and elevated levels of the hormones FSH and gonadotropin. Premature ovarian insufficiency and delayed puberty are caused by high hormone levels.
To prevent the complications of galactosemia, the infant should drink milk free of galactose. These side effects include cataracts, kidney damage, brain damage, and liver failure. In late cases, it may also cause shock or sepsis. Galactosemia can be identified by a blood test that looks for a GALT enzyme deficiency. In order to find mutated genes in the baby and parents, the doctors also perform a genetic test. Through the neonates screening program, which involves taking a blood sample from an infant's heel, doctors are able to diagnose approximately 100% of newborns.
The more effective treatment for galactosemia is a diet free of galactose. As a result, since human milk contains galactose, the infant shouldn't consume it. This child can be given a galactose-free milk formula. Early speech therapy should be given to the infant who is having trouble speaking. When a child reaches school age, they need an educational plan to start learning some skills that, depending on their level of mental development, may be necessary for some galactosemic children. Due to the absence of their menstrual cycle, girls with galactosemia may require hormone replacement therapy.
Let's now examine this illness more closely. We'll talk about these things:
Who is susceptible to developing galactosemia and what causes it?
What are its symptoms, warning signs, and drawbacks?
How will the doctor for your child determine whether they have this illness and how will they confirm this diagnosis?
What options does the doctor have for treating your child, and how can he do so?
Causes of galactosemia
The metabolism of galactose is controlled by three different types of genes. Galactosemia is consequently brought on by mutations in the GALE, GALK1, and GALT genes. The most severe and frequent type of galactosemia is caused by the mutated GALT. Galactose metabolism is totally destroyed by classic galactosemia. Additionally, variant Duarte galactosemia, which reduces galactose metabolism by 75%, can be brought on by a GALT mutation. There is no complete failure, making variant Duarte galactosemia neither dangerous nor treatable. Type II galactosemia is caused by the GALK1 mutation, whereas type III galactosemia is caused by the GALE mutation. Type II and type III are severe, uncommon forms that present mildly. Therefore, when we refer to galactosemia, we mean the classic form.
If both parents are carriers of the mutated gene, the baby is at risk for developing galactosemia. Since galactosemia is an autosomal recessive condition, both parents should give the child two copies of the mutated gene. A baby with galactosemia has a 25% chance of being born if both parents are carriers, compared to 50% carriers and 25% healthy babies. Galactosemia risk is equivalent for both sexes.
Symptoms of galactosemia
The baby looks healthy in the first few days of life. Symptoms start to develop when the baby begins to feed either human milk or galactose formula milk.
In its early days, the infant appears healthy. When a baby starts receiving either human milk or galactose-fortified formula milk, symptoms start to appear.
- early indications
- The infant's appetite is lost in anorexia.
- extreme vomiting
- Jaundice is characterized by a yellowish discoloration of the skin, mucous tissues, and eye whites.
- bigger liver (Hepatomegaly)
- Urine contains protein (proteinuria)
- urine containing amino acids (aminoaciduria)
- Ascites: An accumulation of fluids in the abdomen.
- Edema causes lower limb and abdominal swelling.
- Diarrhea
- growth slowdown
- Lethargy: The infant feels drowsy and unresponsive.
- Irritability: He gets upset over trivial things.
- drastic weight loss
- obvious weakness
- Infection
The infant may exhibit the following physical and mental issues if treatment is delayed:
- current symptoms
- Learning Having trouble learning the language quickly
- Speech\sReading
- fine-motor abilities
- neurological conditions
- Ataxia: a lack of voluntary movement coordination
- Unwilled muscle contractions are known as tremors.
- Symmetry: the inability to gauge distance
- Unbalance and a problematic gait
Ovarian dysfunction:
Premature menopause occurs when the ovaries stop producing follicles before menopause.
- postponed puberty
- reduction in menstrual cycles
- Complications of galactosemia
Galactose's toxic byproducts would build up in the baby's body if the doctors didn't identify and treat the infant right away, which could be fatal.
The following are these complications:
- Failure of the liver means that it is unable to function.
- Damage to the kidneys prevents them from filtering blood.
- brain injury
- Osteoporosis (weak bones that are liable to repeated fractures) (weak bones that are liable to repeated fractures)
- Sepsis: a condition that can be fatal as a result of the body's reaction to an infection
- Shock (No enough blood reaches the vital tissues) (No enough blood reaches the vital tissues)
- cataract: clear lenses that are cloudy
Diagnosis of galactosemia
Program for newborn screening: The goal of this screening is to identify metabolic disorders that do not manifest at birth. The earlier a baby is treated, the lower the likelihood that the baby will develop potentially fatal complications, so this screening is crucial. Blood is drawn from the baby's heel by the doctor. Galactose levels in the blood sample are high while GALT enzyme levels are low.
Genetic test: A positive blood test forces the doctor to confirm the diagnosis through a genetic test.
Test for reducing substances in urine: the doctor looks for galactose and other reducing substances in the urine.
Imaging tests: To identify changes in the brain's tissue, doctors use magnetic resonance imaging (MRI) or computed tomography (CT). The kid might have brain atrophy. Ascites and jaundice can be found using ultrasound.
Proteins and amino acids are found in the urine during a doctor's urine analysis. Additionally, there is a high bilirubin level, which suggests jaundice.
- A liver function test can be used to determine whether the liver is healthy.
- Kidney function tests reveal whether or not a kidney is healthy.
Weight follow-up weighs the infant and looks for weight loss. Growth curves are used by the physician to identify growth failure.
Measure the level of FSH and gonadotropins in adult girls using hormones.
Observation: The doctor requests that the parent watch the baby's learning abilities and neural processes. They should consult a doctor if he has speech or language problems.
Taking care of galactosemia
- eating therapy
Consuming food free of galactose and lactose is the most effective treatment. So you'll learn about the diet, what foods are safe for him to eat, and what to avoid from your doctor's infant?
- Let's look at some foods you should stay away from:
- mummy's milk
- calf milk
- Yogurt
- Cheese\sButter
- Icy dessert
- Tomato
- Mushroom\sbanana\sapple
You should also stay away from any food that contains the following ingredients:
Casein Whey solid Cruds
After 4-6 months, you can start giving him solid food like eggs, meat, and any protein-rich food while still feeding him safe foods like lactose-free milk formula.
dietary supplement
The baby has hypocalcemia because he can't drink human milk. To make up for this calcium deficiency, your child should take calcium supplements and vitamin D.
managing learning challenges
Your doctor recommends that your child see a speech therapist to help him with any communication issues.
Your child should have an educational plan when he or she is old enough to start school in order to enhance their learning abilities and get over any obstacles.
Neurological follow-up: to evaluate the brain's growth and act quickly if the infant exhibits tremors or ataxia
Physical therapy helps your child if he has motor difficulties and increases muscle strength.
In vitro fertilization, hormone replacement therapy, and calcium supplementation are all used to treat premature ovarian insufficiency.
- Treatment of hypogonadotropic hypogonadism with estrogen and androgen hormone therapy
- addressing complications
- When liver failure reaches the end stage, liver transplantation becomes an option.
- Kidney transplantation may be necessary if a child's both kidneys are damaged.
- Antibiotics to prevent sepsis before infection takes hold
- Intravenous fluids to prevent blood pressure drops
- During cataract surgery, the doctor removes the cloudy lens and inserts a clear lens in its place.
- Behavior modification
- helps the family deal with their child and the child's emotions.
Conclusion
Early intervention can protect the child from developmental retardation and help them live healthy lives. The infant will experience liver failure, vision issues, and developmental delay if the doctor fails to properly diagnose and treat him.
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