Author: Courtney Ball

What is pyruvate kinase (PK) deficiency? Pyruvate kinase (PK) deficiency is a rare genetic disorder in which red blood cells break down too quickly, leading to chronic anemia. A person must have two variants in the PKLR gene, or two copies of a variant, in order to have this condition. People with just one variant… Continue reading Pyruvate Kinase Deficiency

What is tyrosinemia type I?  Tyrosinemia type I is a rare genetic disorder characterized by high levels of the amino acid tyrosine that can lead to liver and kidney disease. A person must have two variants in the FAH gene in order to have this genetic condition. People with just one variant in the FAH… Continue reading Tyrosinemia Type I & Genetics

What is Sjögren-Larsson syndrome? Sjögren-Larsson syndrome is a rare genetic disorder characterized by scaly dry skin, intellectual disability, and persistent muscle stiffness. A person must have two variants in the ALDH3A2 gene in order to have this genetic condition. People with just one variant in the ALDH3A2 gene are called carriers. They’re not expected to… Continue reading Sjögren-Larsson Syndrome

What is MCAD deficiency?  MCAD Deficiency is a rare genetic disorder characterized by episodes of very low blood sugar while fasting or under stress. A person must have two variants in the ACADM gene in order to have this genetic condition. People with just one variant in the ACADM gene are called carriers. They’re not… Continue reading MCAD Deficiency

What is Leigh syndrome, French Canadian type? Leigh syndrome, French Canadian disorder (LSFC) is a rare genetic disorder. It is characterized by life-threatening periods of lactic acid buildup and brain injury, as well as failure to gain weight. A person must have two variants in the LRPPRC gene in order to have this condition. People… Continue reading Leigh Syndrome, French Canadian Type

What is familial Mediterranean fever (FMF)? Familial Mediterranean fever, or FMF, is a genetic disorder characterized by recurring short episodes of fever, as well as inflammation in the abdomen, chest, and joints. In most cases, a person must have two variants in the MEFV gene, or two copies of a variant, in order to have… Continue reading Familial Mediterranean Fever

What is familial dysautonomia? Familial dysautonomia is a rare genetic disorder that affects many different areas of the body. It is characterized by severe dysfunction in different parts of the nervous system that control movement, the senses, and involuntary (automatic) functions.  The genetics behind familial dysautonomia Familial dysautonomia is caused by variants in the ELP1… Continue reading Familial Dysautonomia

What is Canavan disease? Canavan disease, also known as ASPA deficiency, is a rare genetic disorder characterized by a loss of nerve cell function in the brain that gets worse over time. A person must have two variants in the ASPA gene, or two copies of a variant, in order to have this condition. People… Continue reading Canavan Disease

What is Bloom syndrome? Bloom syndrome is a rare genetic disorder characterized by impaired growth and an increased risk of infections and cancer. A person must have two variants in the BLM gene, or two copies of a variant, in order to have this condition. People with just one variant in the BLM gene are… Continue reading Bloom Syndrome