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Genetic disorders

Pearson Syndrome: A Rare Mitochondrial Disorder

What is Pearson Syndrome? Pearson Syndrome is a rare, fatal mitochondrial disorder characterized by multisystem involvement, commonly affecting the bone marrow and pancreas. With an incidence of approximately one in...

Malignant Hyperthermia: Recognize & Respond to This Emergency

Malignant hyperthermia is a sudden, severe onset of muscle rigidity, hypermetabolism, respiratory failure, and cardiovascular compromise in a...

Hunter Syndrome: Understanding This Rare Genetic Disorder

Hunter syndrome (also known as mucopolysaccharidosis II or MPS II) is a rare X-linked recessive lysosomal storage disorder...

Batten Disease: Understanding Symptoms & Treatment Options

Batten disease is a rare disease affecting the nervous system. Weak eyesight, seizures, slowed growth rate, delays in...

MODY Diabetes: Unraveling the Unique Form of Diabetes

MODY Diabetes Maturity-onset diabetes of the young (MODY) is a non-insulin-dependent type of diabetes mellitus that doctors usually discover...

Pearson Syndrome: A Rare Mitochondrial Disorder

What is Pearson Syndrome? Pearson Syndrome is a rare, fatal mitochondrial disorder characterized by multisystem involvement, commonly affecting the bone marrow and pancreas. With an...

Malignant Hyperthermia: Recognize & Respond to This Emergency

Malignant hyperthermia is a sudden, severe onset of muscle rigidity, hypermetabolism, respiratory failure, and cardiovascular compromise in a patient in response to the anesthetic...

Hunter Syndrome: Understanding This Rare Genetic Disorder

Hunter syndrome (also known as mucopolysaccharidosis II or MPS II) is a rare X-linked recessive lysosomal storage disorder with a significantly higher prevalence in...

Batten Disease: Understanding Symptoms & Treatment Options

Batten disease is a rare disease affecting the nervous system. Weak eyesight, seizures, slowed growth rate, delays in cognitive learning, motor skills disability, and...

MODY Diabetes: Unraveling the Unique Form of Diabetes

MODY Diabetes Maturity-onset diabetes of the young (MODY) is a non-insulin-dependent type of diabetes mellitus that doctors usually discover in young adults. MODY is mostly...

Chronic Granulomatous Disease: Exploring the Rare Immune Disorder

Chronic granulomatous disease (CGD) is a rare genetic condition where white blood cells, known as phagocytes, cannot effectively destroy certain bacteria and fungi. This...