metabolic disorder

Metabolic disorders in babies

Ever heard of metabolic disorders in babies? Well, it is one of the fatal disorder you will find in the infant. Nowadays, a newborn undergoes different health checking process. These are known as newborn screening. By these tests, you can diagnose the diseases that are dangerous but curable if it is detected at an early age.  A metabolic disorder is one of them. This disease creates unusual chemical reactions in the body and disturbs the metabolic process. Let’s know more about the disorder, symptoms, and treatments of this disorder in infants.

Fatal metabolic disorders in infants

Metabolism is the process that helps to create energy from the food that you take. Metabolism breaks down the fat, carbohydrate, and protein to release the energy and turns the excess nitrogen to waste that exits as urine. When the newborn takes the food, the enzymes of the digestive system breaks down the food into acids and sugar. The body uses them then or stores it for later. When your baby has a metabolic disorder, the foods will stay unbroken that causes the body to have too much or fewer food substances like blood sugar, phenylalanine, and amino acids. Infants with the metabolic disorder suffer from different harmful injuries if the metabolic condition is not diagnosed and treated properly.

Metabolic disorders symptoms

The metabolic disorder causes huge disorder in the body’s normal chemical process and creates different symptoms like:

  • Body fluids with maple smell.
  • Osteoporosis makes the bone weak and thin.
  • Creating a memory problem
  • Bloated kidney, heart, and liver.
  • Growth problem in the body
  • Infections and hypoglycemia
  • Metabolic brain disease
  • Muscle weakness

These symptoms show up in the infant body after a few days of birth if the metabolic disorder is inherited. To know about your newborn metabolism, there is a metabolic test known as a metabolic disorder in newborn screening.

Newborn screening for metabolic disorder

The newborn screening may sound scary, but the test is simple and quick. The benefit of this screening is massive. Early treatment helps the bay to improve and avoid severe health problems or death.

When the parents are ready to go for the test, the nurse or midwife will do the test by pricking the baby heel and collect a few drops of blood in an extraordinary filter paper. Sometimes the baby will feel uncomfortable during the test, make the baby comfortable after the test is done.

Types of metabolic disorders in babies

Though the disorders are rare in the babies, a screening is must after born. Because your baby will seem healthy and happy after birth and after days or years, the symptoms will show up and do the damages in the body. Among the different types of metabolic disorders, here are the common ones that may appear in the baby:

1. Phenylketonuria:

Phenylketonuria (PKU) is an inherited disorder where phenylalanine (amino acid) builds up in the body. This amino acid comes from milk and meat. When the amino acid fails to digested, then it starts to get sored in the blood system. For this, mental development gets hampered and causes severe problems like metabolism brain disease.

The symptoms are:

  • A moldy odor in the urine, breath
  • Neurological problem
  • Eczema
  • Delayed growth development
  • Hyperactivity

2. Galactosemia:

Galactosemia doesn’t allow the sugar conversion in the glucose. The sugar comes from the milk, and when it fails to convert into glucose, it builds up in the body. This build-up causes lots of damage in the eyes, brain, kidney, and liver. This leads to kidney failure, liver disease, vomiting, and even worse death.

The symptoms are:

  • Poor appetite
  • No weight gain
  • Jaundice
  • Vomiting
  • Bleeding

3. MCAD Deficiency:


MCAD Deficiency stops the conversion of the fat to the energy. There will be no symptoms until the second month to two years. This condition damages the liver and brain, and sometimes it gets fatal.

The symptoms are:

  • Weakness
  • Low blood pressure
  • Vomiting

4. G6PD Deficiency

This condition appears when the body isn’t producing enough enzyme glucose-6-phosphate dehydrogenase. This enzyme helps to function the red blood cells. So the body faces severe problems like an infection in the kidney and brain.

The Symptoms are:

  • Jaundice
  • Diabetic ketoacidosis
  • Poor appetite

5. Maple Syrup Urine Disease:


This condition doesn’t allow the enzyme to work that helps to absorb the three essential amino acids that are responsible for growth. This abnormality builds up the amino acid in the blood. For this, the urine gets a maple-like smell and leads to coma and death.

The symptoms are:

  • Not hungry
  • Seizure
  • Weakness
  • Vomiting
  • Coma

Causes and treatments

The only cause of these rare diseases is inherited. If you or your husband has a family history, then there is a high chance of having these problems.

If your baby goes for newborn screening, then the problems will get detected if he/she has one. Doctors can treat the problems then easily and stop health risks. Doctors will give a special diet for the baby with a different metabolic disorder.

Frequently asked question

  1. What is a metabolic disorder?

Ans: This disorder happens when the body faces an abnormal chemical reaction after taking food.

  1. Can metabolic disorders be treated?

Ans: there are limited treatments for inherited metabolic disorders. But it can be suppressed by following some special diets given by the doctor.

  1. What test do they run on newborns?

Ans:  the newborn has to go for newborn screening to detect rare and inherited diseases.

Final thought

Metabolic disorder in babies is a rare case. But your baby will not show any symptoms if he/she has the disease until the 2nd week too two years. If you wait till that time, I am sorry your baby will suffer from different damages in the liver, kidney, and nervous system. So every newborn needs to go for a newborn screening test to stay happy and healthy for a long time

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