Inborn Errors Of Metabolism

Metabolism is a chemical reaction sequence, and these reactions break down nutrients and generate body energy. Inborn errors of metabolism cause disrupted metabolic pathways. The Common blood test helps doctors diagnose the problem early. The common blood test also helps get the right treatment for inborn errors of metabolism.


Inborn metabolism errors impact 1 in 1,500 people. Due to the health consequences of these disorders, it's crucial to understand them to provide the right treatment and avoid complications. Different genes cause inborn metabolic errors. Inherited metabolic disorders include:


A deficiency of phenylalanine hydroxylase (PAH) causes phenylketonuria. Intellectual disabilities and neurological and behavioural disorders affect children with PKU who eat high-protein foods.

Lysosomal storage disorders

Lysosomes break down cell waste. The deficiency of lysosomal enzymes causes toxic waste buildup in cells, resulting in disorders including:

  • Niemann-Pick disease

Acid sphingomyelinase deficiency causes NPD types A and B. Sphingomyelinase breaks down lipids. Lipid accumulation damages the brain, spleen, and liver. Therefore, NPD newborns have an enlarged liver, nerve damage, and feeding difficulties.

  • Tay-Sachs disease

A deficiency of the enzyme Hexosaminidase causes this fatal inherited metabolic disorder. GM2 ganglioside accumulates in brain nerve cells. TSD causes progressive weakness and nerve damage in newborns and affects the nervous system so severely that many children die before age 5.

  • Gaucher disease

This disease is due to a deficiency of glucocerebrosidase, which breaks down glucocerebroside. Glucocerebroside molecules accumulate in the bone marrow, spleen, liver, and nervous system without the enzyme, affecting their function. Gaucher disease causes an enlarged liver, bone pain, and low platelet. Gaucher disease is mild in most children or adults.

  • Hurler syndrome

This syndrome is the result of a deficiency of lysosomal Alpha-L-iduronidase, which breaks down glycosaminoglycans. Glycosaminoglycan accumulation affects the joints and heart causing abnormal bone structure and developmental delay.

  • Glycogen storage diseases

These metabolic diseases are defects in enzymes necessary for breaking down or storing glucose as glycogen. Deficient glycogen-processing enzymes cause liver and muscle weakness and pain. Low blood sugar may occur from the inability to break down glycogen.

Classic Galactosemia

The body can't break down galactose without galactose-1-phosphate uridyl transferase. Infants with galactosemia who drink human or animal milk get kidney, liver, brain, and eye damage. Jaundice, liver failure, vomiting, and growth failure cause infant death.


  • Tiredness and lack of energy
  • Hypoglycemia
  • Poor eating habits
  • Vomiting
  • High blood acid or ammonia
  • Abnormal liver function
  • Growth failure in newborns
  • Seizures
  • Unexpected weight loss in newborns and children or failure to grow


  • Gaucher disease
  • Wilson's disease
  • Hunter syndrome
  • Krabbe disease
  • Metachromatic leukodystrophy
  • Familial hypercholesterolemia
  • Lactic acidosis, Mitochondrial encephalopathy, stroke-like episodes
  • Maple syrup urine disease
  • Niemann-Pick
  • Phenylketonuria
  • Porphyria
  • Tay-Sachs disease

Birth screening may detect several metabolic disorders. Doctors identify others when a child shows symptoms. The type and severity of an inborn metabolic error determine treatment.

When to see a doctor

The treatment of early inborn errors in metabolism prevents long-term health problems. It is necessary to consult a doctor when the symptoms described above are seen. At Apollo, we have innovative treatment for you. Our genetics specialists use modern genetic testing to determine your child's condition and provide gene-based treatment. 


These inherited disorders aren't preventable. Pregnant women may make the following efforts to protect their babies' health.

  • Folic acid intake during pregnancy may reduce brain birth defects.
  • Telling your doctor you're pregnant or planning to become pregnant
  • Avoiding radiation exposure
  • Avoiding smoking and alcohol
  • Ask your doctor for over-the-counter and prescription drug dangers for pregnant women.
  • Taking care of oneself by maintaining a healthy diet and controlling diabetes
  • Preventing infections as much as possible by healthy habits including thoroughly cooking meat, often washing your hands, and avoiding contact with sick people.



Medicines may reduce symptoms and avoid life-threatening emergencies.

Enzyme replacement treatment

Injections of the deficient enzyme may help treat some disorders.

Change in diet

You must avoid foods your body can't break down.


Inborn errors in metabolism impact the body's metabolism. Complex chemicals, enzymes, hormones, cells, and organs are necessary for proper functioning.

When we consume food, enzymes break it down into sugars, amino acids, fatty acids, and other molecules. These chemicals fuel the body and help create and repair tissues. What the body can't use is waste. Enzymes help convert or break down bodily wastes for elimination.

Inborn metabolism errors disrupt the metabolism. It blocks the body from using needed substances. Waste may build up and harm the body, creating health problems, including child development issues.

Inborn metabolism errors are genetic and present at birth. Early diagnosis prevents lifelong health problems.

Request an appointment at Apollo Cradle, Amritsar - Abadi Court Road. Call 1860-500-1066 to book an appointment.

1. How can you rule out inborn metabolism error?

Ultrasonography can detect inborn metabolism error in utero. Doctors see it during newborn screening, enabling early detection and treatment.

2. Are inborn metabolism errors inherited?

It is an inherited genetic condition that prevents the body from converting food to energy. The problems are mainly caused by defective enzymes that break down food.

3. How many inborn errors of metabolism are there?

Congenital metabolism disorders include maple sugar urine disease, galactosemia, fructose intolerance, and phenylketonuria. Newborn screening may detect these disorders.

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