List of articles in "Disease" category - Page 522

Leigh disease also known as juvenile subacute necrotizing encephalomyelopathy Leigh syndrome infantile subacute necrotizing encephalomyelopathy and subacute necrotizing encephalomyelopathy (SNEM) is a rare inherited neurometabolic disorder that affects the central […]

Marasmus is a form of severe malnutrition characterized by energy deficiency. A child with marasmus looks emaciated. Body weight is reduced to less than 60% of the normal (expected) body […]

Cardiofaciocutaneous Syndrome (CFC) is an extremely rare and serious genetic disorder.It is characterized by the following:Distinctive facial appearanceUnusually sparse brittle curly scalp hairA range of skin abnormalities from dermatitis to […]

A club foot or clubfoot also called congenital talipes equinovarus (CTEV) is a congenital deformity involving one foot or both. The affected foot appears to have been rotated internally at […]

Medium-chain acyl-CoA dehydrogenase deficiency often known as MCAD deficiency or MCADD is a disorder of fatty acid oxidation that impairs the body’s ability to break down medium-chain fatty acids into […]

A rhabdomyosarcoma commonly referred to as RMS is a type of cancer specifically a sarcoma (cancer of connective tissues) in which the cancer cells are thought to arise from skeletal […]

Wilms’ (/vɪlmz/) tumor Wilms tumor or nephroblastoma is cancer of the kidneys that typically occurs in children rarely in adults.It is named after Dr Max Wilms the German surgeon (1867–1918) […]

Hyperammonemia (or hyperammonaemia) is a metabolic disturbance characterised by an excess of ammonia in the blood. It is a dangerous condition that may lead to encephalopathy and death. It may […]

Propionic acidemia also known as propionic aciduria propionyl-CoA carboxylase deficiency and ketotic glycinemia is an autosomal recessive metabolic disorder classified as a branched-chain organic acidemia.The disorder presents in the early […]

Methylmalonic acidemia (MMA) also called methylmalonic aciduria is an autosomal recessive metabolic disorder. It is a classical type of organic acidemia.Methylmalonic acidemia stems from several genotypes all forms of the […]