Enzyme deficiency in children causes symptoms and effective treatment methods

Enzyme deficiency in children is an important health issue that can affect a child’s growth and overall well-being. This condition may initially show mild symptoms such as fatigue or digestive problems, but it can lead to serious complications if not diagnosed early. In this Medikal guide, we will discuss the causes of enzyme deficiency in children, its main symptoms, diagnostic methods, types of treatments including medications, surgery, and vitamins, as well as daily tips for parents to ensure a healthy and safe life for their child. Whether you are a mother or a father, this article will provide all the information you need to understand the condition and manage it properly.

1. Does enzyme deficiency appear from birth?

Not always. Some children show symptoms from the first feed, while others may develop them months or even years later, depending on the type of enzyme.

2. Do all types of enzyme deficiency affect digestion?

No, not all. Some enzymes are only related to digestion, while others affect muscle growth, blood, or liver and kidney functions.

3. Can enzyme deficiency be prevented?

If the cause is genetic, complete prevention isn’t possible. However, early testing and monitoring can help manage the condition before complications occur.

4. Does enzyme therapy need to last a lifetime?

In some cases, yes, especially if the deficiency is permanent. Dosages, however, may change depending on the child’s age and health status.

5. Can enzyme deficiency cause behavioral or learning problems?

Not directly. But poor nutrition or slow growth may affect concentration and energy, which can impact learning.

6. Does the child need regular enzyme tests?

Yes. Regular testing is important to monitor improvement and adjust treatment, especially if weight changes or new symptoms appear.

7. Can enzyme deficiency go away over time?

Some temporary types, like deficiencies caused by liver or pancreatic illnesses, may improve over time. Genetic types are usually permanent.

8. Can enzyme deficiency cause other diseases?

Yes. A deficiency in certain enzymes can lead to digestive problems, growth failure, or liver issues in the long term if left untreated.

9. When should you see a doctor immediately?

Sudden weight loss or very slow growth.
Fatty diarrhea or repeated vomiting.
Severe fatigue or abnormal muscle weakness.
Any new heart or liver-related symptoms.

Types of Enzyme Deficiency in Children

Enzyme deficiency can affect the body in different ways depending on the enzyme involved. The main types include:

1. Digestive Enzyme Deficiency

The most common type in children, affecting the body’s ability to digest food.

Examples:

Lactase deficiency: Difficulty digesting lactose (milk sugar).
Pancreatic amylase or lipase deficiency: Difficulty digesting starches and fats.

Symptoms: Diarrhea, gas, bloating, vomiting, loss of appetite.
Treatment: Enzyme supplements, dietary adjustments, lactose-free milk.

2. Blood Enzyme Deficiency

Deficiencies in certain blood enzymes can affect oxidation or blood cell formation.

Examples:

G6PD deficiency: Causes red blood cell breakdown, leading to anemia when exposed to certain foods or medications.
Clotting factor deficiencies (Factor VII or IX): Leads to easy bleeding or bruising.

Symptoms: Easy bruising, frequent bleeding, severe fatigue, sometimes jaundice.
Treatment: Avoid triggers, supplements, sometimes blood transfusions in severe cases.

3. Liver Enzyme Deficiency

These enzymes help remove toxins and break down fats and proteins.

Examples:

Oxidation enzyme deficiency: Toxin buildup in the body.
Ammonia-converting enzyme deficiency: Leads to ammonia toxicity.

Symptoms: Jaundice, vomiting, loss of appetite, liver enlargement, neurological issues in severe cases.
Treatment: Nutritional supplements, detoxifying medications, sometimes urgent medical intervention.

4. Nervous System Enzyme Deficiency

Some genetic disorders reduce enzymes crucial for brain function.

Examples:

Lysosomal enzyme deficiencies (e.g., Gaucher or Tay-Sachs): Accumulation of undigested materials in nerve cells.

Symptoms: Delayed growth, motor problems, muscle weakness, sometimes cognitive issues or seizures.
Treatment: Some cases have enzyme replacement therapy; others receive supportive care only.

5. General Metabolic Enzyme Deficiency

Affects the body’s ability to convert food into energy and use nutrients.

Examples:

Sugar or fat metabolism enzyme deficiency: Causes low blood sugar, fatigue.
Protein enzyme deficiency (e.g., Phenylketonuria – PKU): Leads to harmful amino acid buildup.

Symptoms: Growth difficulties, developmental delays, neurological issues, sometimes heart or liver problems.
Treatment: Strict diet, special supplements, some cases require enzyme replacement therapy.

Causes of Enzyme Deficiency in Children

1. Genetic Causes

Most enzyme deficiencies are caused by mutations in the gene responsible for producing the enzyme.

May be inherited from a parent or appear for the first time in the child.
Examples: G6PD deficiency, lactase deficiency.

2. Acquired Causes

Liver or kidney diseases reducing enzyme production.
Vitamin or mineral deficiencies needed for enzyme synthesis.
Chronic infections affecting enzyme-producing cells.

3. Nutrition or Growth-Related Deficiency

Children with malnutrition or absorption problems may develop digestive or metabolic enzyme deficiencies.
Example: Fat or protein enzyme deficiency due to pancreatic or intestinal problems.

4. Rare Causes

Certain medications or toxins that inhibit enzyme production or destroy enzyme-producing cells.
Some immune disorders affecting enzyme production.

Important Notes

Enzyme deficiency can be mild with no clear symptoms or severe, causing health complications.
Early diagnosis is crucial through blood tests or genetic testing depending on the enzyme type.
Treatment depends on the type of deficiency and often includes enzyme supplements or dietary adjustments under medical supervision.

Symptoms of Enzyme Deficiency in Children

Symptoms vary depending on the affected enzyme but usually involve:

Digestive problems:

Abdominal bloating and excessive gas.
Frequent diarrhea or fatty stools.
Difficulty absorbing food or loss of appetite.
Repeated vomiting in infants.

Delayed growth:

Slow weight and height gain compared to healthy children.
Delayed developmental milestones like sitting, crawling, or walking.

Skin symptoms:

Rashes or itching.
Dry or cracked skin.
Sometimes yellowing of skin or eyes (in liver enzyme deficiency).

Muscle weakness or fatigue:

General muscle weakness, especially with metabolic enzyme deficiencies.
Quick fatigue after play or physical activity.

Blood-related symptoms:

Anemia or easy bruising.
Minor bleeding or slow wound healing.

Other symptoms based on enzyme type:

Lactase deficiency: diarrhea, gas, abdominal pain after milk.
G6PD deficiency: jaundice, hemolysis triggered by certain foods or drugs.
Liver or pancreatic enzyme deficiency: digestive problems, vitamin deficiencies, toxin buildup.

Stages of Enzyme Deficiency in Children

Enzyme deficiency can appear at different stages depending on the type and severity of the deficiency. The main stages include:

1. Early Stage (Newborn – 6 Months)

Common Symptoms:

Difficulty breastfeeding or swallowing.
Frequent vomiting or severe colic.
Abdominal bloating or gas.
Sometimes chronic diarrhea or fatty stools (especially with digestive enzyme deficiencies).

Notes:

At this stage, enzyme deficiency often appears quickly due to difficulty digesting milk or metabolic issues.
Early detection is crucial to prevent weight loss or malnutrition.

2. Early Childhood (6 Months – 3 Years)

Common Symptoms:

Slow growth or delayed weight and height gain.
Muscle weakness and reduced activity.
Skin problems or itching with some enzyme deficiencies.
Seizures or neurological irritability in some genetic disorders affecting neural enzymes.

Notes:

The impact of enzyme deficiency on overall growth begins to appear.
Dietary management or enzyme supplements can significantly improve the condition.

3. Late Childhood (3 – 12 Years)

Common Symptoms:

Delayed cognitive or educational development in some cases.
Digestive issues such as bloating, frequent diarrhea, or difficulty digesting certain foods.
Quick fatigue, general weakness, and lack of normal activity for age.

Notes:

Delayed diagnosis may lead to permanent complications such as growth issues or persistent muscle weakness.
Regular nutritional support and enzyme supplements are essential.

4. Adolescence (12 Years and Above)

Common Symptoms:

Some chronic issues may continue, such as growth disorders, digestive problems, or persistent fatigue.
Certain inherited enzyme deficiencies may gradually affect the liver, heart, or nervous system.

Notes:

Early treatment and support in previous stages reduce the impact of adolescence.
Continuous medical follow-up is important to prevent long-term complications.

General Notes

Not all enzyme deficiencies follow the same stages; some appear from birth, while others develop gradually as the child grows.
Early intervention with proper diet, supplements, or supportive therapy significantly improves the child’s growth and health.
Regular check-ups with a specialist are essential to determine the type and severity of the deficiency and to plan the best treatment.

Harmful Effects of Enzyme Deficiency in Children

The effects depend on the type and severity of the enzyme deficiency and may include:

1. Effects on Growth and Development

Slow weight and height gain compared to healthy children.
Delay in achieving motor milestones such as sitting, crawling, or walking.
General muscle weakness, affecting daily activity.

2. Effects on the Digestive System

Poor food absorption and deficiency in essential vitamins and minerals.
Abdominal bloating, gas, and frequent diarrhea.
Loss of appetite or vomiting in infants.

3. Effects on Skin and Hair

Dry, cracked skin or persistent rashes.
Hair loss or weak, brittle hair in some cases.
Yellowing of skin or eyes (jaundice) in liver enzyme deficiencies.

4. Effects on Blood and Vital Organs

Anemia, easy bruising, or minor bleeding in some enzyme deficiencies.
Liver or pancreatic problems, such as toxin accumulation or chronic inflammation.
Occasionally kidney or heart problems in certain inherited enzyme deficiencies.

5. Effects on Immunity and Energy

Weakened immune system due to lack of vital nutrients.
Quick fatigue and exhaustion after physical activity.
Increased susceptibility to infections.

6. Long-Term Effects if Untreated

Cognitive and mental developmental delays in some cases.
Persistent digestive and nutritional problems.
Severe complications in the liver, heart, or blood depending on the type of deficiency.

Important Notes:

The severity varies from child to child depending on the enzyme type and deficiency level.
Early diagnosis and proper treatment prevent most complications.
Treatment usually includes enzyme supplements, dietary adjustments, and overall nutritional support.

Diagnosis of Enzyme Deficiency in Children

1. Clinical Examination

Observing signs such as delayed growth, digestive problems, muscle weakness, and skin or neurological issues.

2. Family Medical History

Some enzyme deficiencies are hereditary, so knowing about similar conditions in relatives is important.

3. Laboratory Tests

Blood tests: Measure enzyme levels or metabolic byproducts; liver and pancreas function tests.
Urine and stool tests: Detect undigested fats or abnormal metabolic products.

4. Genetic Testing

Confirms diagnosis, especially if there is a family history or unclear symptoms.
Helps determine the specific enzyme deficiency, its cause, and predict complications and treatment plans.

5. Supportive Tests as Needed

Imaging to assess the impact on the liver or pancreas.
Growth and nutrition tests: monitoring weight, height, and nutrient intake.
Neurological or muscular tests if muscle weakness or movement problems are present.

Important Notes:

Early diagnosis is crucial to prevent complications like malnutrition, growth delays, heart or liver issues, and developmental delays.
Some children require frequent follow-ups with a multidisciplinary team: pediatricians, nutritionists, physiotherapists, and genetic specialists when needed.

Managing Enzyme Deficiency in Children

Effective management requires close monitoring and multi-faceted support to ensure normal growth and good health. Key approaches include:

1. Medication or Enzyme Replacement

Some enzyme deficiencies can be compensated with enzyme tablets or injections depending on the type.
Supportive medications: improve digestion, nutrient absorption, and provide vitamin or mineral supplements.

2. Nutritional Support

Diet modification based on the type of deficiency:
- Easily digestible foods for children with digestive issues.
- Avoid foods that lead to harmful metabolic byproducts.
Monitor weight and height regularly to ensure normal growth.
Nutritional supplements when needed.

3. Physical Therapy and Motor Support

Exercises to strengthen muscles and improve coordination.
Support children in sitting, crawling, and walking gradually if muscle weakness or delayed movement is present.

4. Psychological and Social Support

Emotional support for children with delayed growth or motor difficulties.
Educate parents on how to encourage and support the child positively.

5. Regular Medical Follow-Up

Monitor enzyme levels and metabolic byproducts.
Track growth and development.
Assess liver, pancreas, and heart health depending on deficiency type.
Adjust treatment based on response and symptom improvement.

6. Genetic Counseling

Identify the cause if the deficiency is hereditary.
Estimate recurrence risk in future children.
Monitor any symptoms related to sex or family history.

7. Early Intervention

The earlier the deficiency is detected and treated with dietary, medical, and motor support, the better the child’s growth and chances for a normal life.

Medication-Based Treatment by Enzyme Type

1. Digestive Enzyme Deficiency

Lactase: Supplements to aid milk and dairy digestion.
Pancreatic enzymes (lipase, amylase, protease): Capsules taken with meals to improve digestion and nutrient absorption.

2. Metabolic Enzyme Deficiency

PKU (Phenylketonuria): Low-phenylalanine diet to reduce damage.
G6PD: Avoid drugs or foods that trigger hemolysis.

3. Hormonal Enzyme Deficiency

Thyroid hormone deficiency: Treated with synthetic thyroid hormone (Levothyroxine).
Growth hormone deficiency: Treated with growth hormone injections under medical supervision.

4. Liver Enzyme Deficiency

Liver-supportive medications or nutritional supplements to improve metabolism and reduce toxin accumulation.

General Notes:

Medication replaces or reduces the effects of the deficiency but does not cure the genetic cause.
Regular follow-up is essential to adjust dosages according to the child’s weight and response.
Early drug treatment combined with dietary and physical support greatly improves growth and quality of life.

Surgical or Laser Treatment for Enzyme Deficiency in Children

1. Digestive Enzyme Deficiency with Gastrointestinal Complications

When Surgery is Needed:

If enzyme deficiency causes intestinal obstruction, pancreatic cysts, or severe stomach complications.
Examples: some cases of pancreatic insufficiency or bile duct obstruction.

Type of Surgery:

Correct intestinal or bile duct obstruction.
Remove pancreatic cysts if large or problematic.

Laser:

Rarely used and generally not applicable in these cases.

2. Skin or Vascular Enzyme Deficiency

Some children have skin problems due to specific enzyme deficiencies, such as collagen or pigmentation disorders.

Laser Therapy

Purpose: Remove or reduce the appearance of visible blood vessels or skin spots.
Benefits: Improves skin appearance and reduces dermatological complications.

Surgery

Purpose: In some cases, to remove excess skin tissue or correct skin deformities.

Liver or Metabolic Enzyme Deficiency with Organ Complications

Surgery: Occasionally, liver transplantation may be performed in rare and severe cases where toxin buildup or liver failure occurs.
Laser: Usually not used in these cases.

Important Notes:

Surgical or laser interventions depend on the type of enzyme deficiency and the severity of complications, not the genetic deficiency itself.
Goal: Correct organ or functional problems that threaten the child’s health, improve external appearance, or reduce complications.
Follow-up after surgery or laser treatment is essential to ensure proper recovery and monitor any complications.

Vitamin Therapy for Enzyme Deficiency in Children

1. Goals of Vitamin Therapy

Compensate for nutritional deficiencies caused by poor absorption of essential nutrients.
Support normal growth, bone health, brain development, and immune system function.
Reduce complications resulting from poor digestion or malnutrition.

2. Types of Vitamins Used (Based on Need)

Fat-Soluble Vitamins (A, D, E, K):

For children with fat absorption problems.
Forms: Capsules, drops, or emulsions.
Benefits:
- Vitamin A: Protects vision
- Vitamin D: Strengthens bones
- Vitamin E: Supports antioxidants
- Vitamin K: Supports blood clotting

Water-Soluble Vitamins (B-Complex, C):

To compensate for anemia or support neurological growth.
Some children may need B12 or folic acid.

Mineral Supplements:

Calcium, magnesium, zinc, iron to support bones, growth, and vital body functions.

3. How to Use

Dosage is determined according to the child’s age, severity of deficiency, and blood test results.
Usually given daily or according to a physician’s schedule.
Some children require a specialized vitamin combination if they have digestive absorption issues.

4. Important Notes

Vitamin therapy does not treat the genetic cause of enzyme deficiency but reduces symptoms and prevents complications.
Regular follow-up is essential: blood tests to check vitamin levels and adjust dosages as needed.
In severe malabsorption cases, the child may need special forms of vitamins that are easier to absorb.