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Genetic disorders

Blood

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...
Dr. Hareem Sajid -
Anesthesia

Malignant Hyperthermia: Recognize & Respond to This Emergency

Dr. Shama Nosheen -
Malignant hyperthermia is a sudden, severe onset of muscle rigidity, hypermetabolism, respiratory failure, and cardiovascular compromise in a...
Endocrinology

Hunter Syndrome: Understanding This Rare Genetic Disorder

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

Batten Disease: Understanding Symptoms & Treatment Options

Dr. Ayesha Maqsood -
Batten disease is a rare disease affecting the nervous system. Weak eyesight, seizures, slowed growth rate, delays in...
Genetic disorders

MODY Diabetes: Unraveling the Unique Form of Diabetes

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

Fabry Disease: Insights into a Rare Condition

Genetic disorders Dr. Ayesha Maqsood Dr. Ayesha Maqsood -
Fabry disease is a type of lysosomal storage disease. It is a rare condition in which the body does not make enough of an...

DiGeorge Syndrome: A Closer Look

Congenital Disorders Dr. Ayesha Bukhari Dr. Ayesha Bukhari -
What is DiGeorge Syndrome? DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic disease that is present from birth. The main reason...

Crigler Najjar Syndrome: Understanding a Rare Condition

Children Dr. Ayesha Maqsood Dr. Ayesha Maqsood -
Crigler Najjar syndrome is an inherited disorder in which genetic abnormality causes a poor function of enzymes involved in bilirubin processing, and it leads...
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