Inherited Metabolic Disorders

Overview

Inherited metabolic disorders result from alterations in specific genes that impact the body’s metabolic processes. Various gene mutations give rise to distinct types of inherited metabolic disorders, with these genetic changes typically being inherited from both parents. However, in some cases, the mutation may originate solely from one parent, most commonly the mother. These conditions are also referred to as inborn errors of metabolism.

Metabolism, a complex series of chemical reactions essential for sustaining life, encompasses several crucial functions:

• Energy Production: Special enzymes break down food or specific chemicals, enabling the body to immediately use them as fuel or store them for later use.
• Synthesis or Elimination of Substances: Certain chemical processes generate substances essential for the body, while other processes break down substances that are no longer needed.

When these processes fail to function correctly, a metabolic disorder arises. The root cause could be a deficiency or absence of a particular enzyme or other underlying issues. Inherited metabolic disorders are categorized based on the affected substance and whether it accumulates excessively due to breakdown impairment or is deficient or absent.

Symptoms

Numerous inherited metabolic disorders result from various genes. The manifestation of symptoms is contingent upon the specific disorder and its severity.

Some instances of inherited metabolic disorders comprise:

• Gaucher disease.
• Hunter syndrome.
• Krabbe disease.
• Porphyria.
• Tay-Sachs disease.
• Wilson’s disease.
• Niemann-Pick.
• Phenylketonuria (PKU).
• Maple syrup urine disease.
• Metachromatic leukodystrophy.
• Familial hypercholesterolemia.
• Mitochondrial Encephalopathy with Lactic Acidosis and Stroke-like Episodes (MELAS).

Symptoms of typical inborn errors of metabolism encompass:

• Seizures.
• Abdominal pain.
• Lethargy (low energy).
• Weight loss.
• Poor appetite.
• Delay development.
• Growth problems.
• Unusual odors in urine, sweat, or breath.

If you have any worries regarding the growth and development of your child or your own well-being, it is advisable to consult with your doctor.

Causes

Inherited metabolic disorders result from alterations in specific genes influencing metabolism. Distinct gene mutations give rise to various types of inherited metabolic disorders, with these genetic changes typically being inherited from both parents. However, in certain instances, the mutation may originate solely from one parent, most commonly the mother. The array of inherited metabolic disorders caused by diverse genes encompasses hundreds of different conditions.

Risk factors

The likelihood of inheriting a metabolic disorder is elevated if either or both parents carry the gene mutation responsible for the condition. In certain scenarios, prospective parents may opt for carrier testing before conceiving. This screening can detect specific gene mutations in parents that might increase the probability of their future children having particular inherited metabolic disorders.