Tag: genetic disorder

  • Phenylketonuria (PKU)

    Phenylketonuria (PKU): Definition and Description of Phenylketonuria (PKU): Phenylketonuria (PKU) is a rare genetic disorder that affects the metabolism of phenylalanine, an amino acid found in many protein-containing foods. PKU is caused by a deficiency in the enzyme phenylalanine hydroxylase (PAH), which is essential for converting phenylalanine into tyrosine, another amino acid. In individuals with…

  • Noonan Syndrome

    Noonan Syndrome: Definition and Description of Noonan Syndrome: Noonan Syndrome is a genetic disorder that affects various parts of the body, primarily characterized by distinctive facial features, short stature, heart defects, and developmental delays. It is classified as a type of genetic condition known as a neurodevelopmental disorder, typically caused by mutations in genes that…

  • Norrbottnian Gaucher Disease

    Norrbottnian Gaucher Disease: Definition and Description of Norrbottnian Gaucher Disease: Norrbottnian Gaucher Disease is a rare genetic disorder, a variant of Gaucher disease, characterized by the deficiency of the enzyme glucocerebrosidase, which leads to the accumulation of fatty substances in various organs, notably the spleen, liver, bones, and bone marrow. It is named after the…

  • Neurofibromatosis

    Neurofibromatosis: Definition and Description of Neurofibromatosis: Neurofibromatosis (NF) is a genetic disorder that causes tumors to form on nerve tissue. It is characterized by the development of multiple benign tumors known as neurofibromas, which can occur anywhere in the body, including the skin, nerves, and other organs. NF is classified into three main types: Neurofibromatosis…

  • Multiple Sulfatase Deficiency

    Multiple Sulfatase Deficiency: Definition and Description of Multiple Sulfatase Deficiency: Multiple Sulfatase Deficiency (MSD) is a rare lysosomal storage disorder characterized by the deficient activity of arylsulfatase enzymes, which are essential for the breakdown of sulfated compounds in the body. This condition leads to the accumulation of unmetabolized substrates in various tissues, resulting in a…

  • Murk Jansen Metaphyseal Chondrodysplasia

    Murk Jansen Metaphyseal Chondrodysplasia: Definition and Description of Murk Jansen Metaphyseal Chondrodysplasia: Murk Jansen Metaphyseal Chondrodysplasia is a rare genetic disorder characterized by abnormal development of the bones and cartilage. This form of chondrodysplasia typically presents with metaphyseal widening, short stature, and skeletal deformities. It is inherited in an autosomal recessive pattern, indicating that both…

  • Nail Patella Syndrome

    Nail Patella Syndrome: Definition and Description of Nail Patella Syndrome: Nail Patella Syndrome (NPS) is a rare genetic disorder characterized by abnormalities in the nails, bones, and kidneys. This condition is typically inherited in an autosomal dominant manner, which means only one copy of the mutated gene from an affected parent can cause the disorder…

  • MPS Disorder I

    MPS Disorder I: Definition and Description of MPS Disorder I: MPS (Mucopolysaccharidosis) Disorder I, also known as Hurler syndrome or MPS I, is a rare genetic disorder caused by a deficiency of the enzyme alpha-L-iduronidase. This enzyme is responsible for the breakdown of glycosaminoglycans (GAGs), which are long chains of sugar molecules in the body.…

  • MPS Disorder II

    MPS Disorder II: Definition and Description of MPS Disorder II: MPS Disorder II, also known as Hunter Syndrome, is a rare genetic disorder that affects the body’s ability to break down certain types of carbohydrates known as glycosaminoglycans (GAGs). This condition is caused by a deficiency in the enzyme iduronate-2-sulfatase, which leads to the accumulation…

  • MPS II

    MPS II: Definition and Description of MPS II: MPS II, also known as Hunter syndrome, is a rare genetic disorder categorized under mucopolysaccharidosis. It arises from a deficiency of the enzyme iduronate-2-sulfatase (I2S), which is critical for the breakdown of glycosaminoglycans (GAGs). This enzyme deficiency leads to an accumulation of GAGs in various tissues and…