Wilson Disease in children
Wilson disease is a rare genetic disorder that affects the body’s ability to process copper. It can lead to the accumulation of copper in various… Read More »Wilson Disease in children
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pediatric genetics
Maple Syrup Urine Disease (MSUD) in children
Maple syrup urine disease (MSUD) is a rare inherited metabolic disorder that affects an individual’s ability to break down certain amino acids properly. The condition… Read More »Maple Syrup Urine Disease (MSUD) in children
Galactosemia in children
Galactosemia is a rare genetic disorder that affects an individual’s ability to metabolize galactose, a sugar found in milk and dairy products. It is typically… Read More »Galactosemia in children
Marfan Syndrome in children
Marfan syndrome is a genetic disorder that affects the connective tissue in the body, leading to a range of symptoms and potential complications. It can… Read More »Marfan Syndrome in children
Phenylketonuria (PKU) in children
Phenylketonuria (PKU) is a rare genetic disorder that affects the body’s ability to metabolize an amino acid called phenylalanine. If left untreated, PKU can lead… Read More »Phenylketonuria (PKU) in children
Huntington’s Disease in children
Huntington’s disease (HD), also known as Huntington’s chorea, is a rare, inherited neurodegenerative disorder that typically presents in adulthood. However, there is a less common… Read More »Huntington’s Disease in children
Tay-Sachs Disease in children
Tay-Sachs disease is a rare and severe genetic disorder that primarily affects the nervous system. It is most commonly seen in infants and young children.… Read More »Tay-Sachs Disease in children
Neurofibromatosis in children
Neurofibromatosis (NF) is a genetic disorder that affects the nervous system, primarily causing the growth of tumors on nerves throughout the body. There are three… Read More »Neurofibromatosis in children
Muscular Dystrophy in children
Muscular dystrophy (MD) refers to a group of genetic disorders that primarily affect the muscles, leading to muscle weakness, muscle wasting, and progressive loss of… Read More »Muscular Dystrophy in children
Down syndrome in children
Down syndrome, also known as trisomy 21, is a genetic disorder that occurs when there is an extra copy of chromosome 21. It is one… Read More »Down syndrome in children