Health and Fitness

Guanidinoacetate Methyltransferase Deficiency  OVERVIEW Guanidinoacetate methyltransferase deficiency (GAMT) is one of the three cerebral creatine deficiency syndromes (CCDS). These conditions are inborn errors of creatine metabolism which interrupt the formation or transport of creatine. Creatine is necessary to use energy derived from adenosine triphosphate (ATP), which provides energy to all cells in the body. Creatine is essential to sustain the high energy levels needed for muscle and brain development. The onset of GAMT symptoms occurs between ages 3 months and 3 years of age. SYMPTOMS The severity of GAMT varies from patient to patient. Global developmental delays affect all individuals with this disorder and may be the first sign, appearing before other symptoms. Most individuals with GAMT deficiency have intellectual disabilities, seizure disorders, muscle weakness, behavior disorders and movement disorders. People with GAMT may have weak muscle tone and delayed developmen...

  Growth Hormone Insensitivity OVERVIEW Growth hormone insensitivity (GHI) is a group of extremely rare genetic disorders in which the body is unable to use the growth hormone that it produces. GHI can be caused by mutations in the growth hormone receptor (GHR) gene or mutations in genes involved in the action pathway within the cell after growth hormone binds to its receptor, preventing production of insulin-like growth factor (IGF-1), the substance responsible for the growth effects of growth hormone. Even more rarely, children with a GH gene deletion who have been treated with recombinant GH develop antibodies that block GH binding to its receptor. Affected children fail to grow normally. Children with GHRD who are treated with IGF-1 before puberty have improved growth, but, unlike children with GH deficiency given recombinant GH treatment, they do not have normal growth restored. Treatment for these conditions is only effective while the growing bones are still open, i.e. befor...

  Greig Cephalopolysyndactyly Syndrome OVERVIEW Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder characterized by physical abnormalities affecting the fingers and toes (digits) and the head and facial (craniofacial) area. Characteristic digital features may include extra (supernumerary) fingers and/or toes (polydactyly), webbing and/or fusion of the fingers and/or toes (cutaneous or osseous syndactyly), and/or additional abnormalities. Craniofacial malformations associated with this disorder may include a large and/or unusually shaped skull; metopic synostosis; a high, prominent forehead (frontal bossing); an abnormally broad nasal bridge; widely spaced eyes (ocular hypertelorism); and/or other physical abnormalities. The range and severity of symptoms may vary greatly among affected individuals. In most individuals, GCPS is inherited in an autosomal dominant pattern. SYMPTOMS GCPS, a rare genetic disorder that is present at birth (congenital), is characterize...

  Granuloma annulare Overview Granuloma annulare (gran-u-LOW-muh an-u-LAR-e) is a skin condition that causes a raised rash or bumps in a ring pattern. The most common type affects young adults, usually on the hands and feet. Minor skin injuries and some medicines might trigger the condition. It's not contagious and usually not painful, but it can make you feel self-conscious. And if it becomes a long-term condition, it can cause emotional distress. Treatment might clear the skin gradually, but the bumps tend to come back. Untreated, the condition might last from a few weeks to decades. Types of granuloma annulare There are five main types of granuloma annulare. It’s possible to develop more than one type of granuloma annulare at the same time. Localized granuloma annulare. Localized granuloma annulare is the most common form of granuloma annulare. It causes a circular rash on your skin limited to one area. Generalized (disseminated) granuloma annulare . Bumps develop over a larger...

  Graft vs. Host Disease Overview Graft versus host disease (GvHD) is a complication that might occur after an allogeneic transplant. During an allogeneic transplant, your healthcare provider transplants hematopoietic stem cells (immature blood cells) from a donor into your body. The donated stem cells eventually become mature blood cells. You may need donor stem cells if you have an issue with your blood cells, as with cancers like leukemia or lymphoma, or other bone marrow failure diseases like aplastic anemia. In GvHD, the donated stem cells (graft) view the recipient’s cells (host) as an unfamiliar threat. As a result, the donated cells attack the recipient’s cells. This is why the disease is called “graft” versus “host.”    Types There are two main types of GvHD. Previously, healthcare providers classified GvHD based on when symptoms started. More recently, providers diagnose the specific type of GvHD based on symptoms and clinical signs (like the results of tests or...

  Gottron Syndrome OVERVIEW Gottron syndrome is an extremely rare inherited disorder characterized by a premature aged appearance (progeroid), especially in the form of unusually fragile, thin skin on the hands and feet (distal extremities). Although the disorder is most typically recognized in early childhood, these characteristic skin findings are present from birth. Gottron syndrome is described as a mild, nonprogressive, congenital form of skin atrophy due to the loss of the fatty tissue directly under the skin (subcutaneous atrophy). This causes the skin to have a dry and transparent appearance. The affected individual is often noted to have hollow cheeks, a beaked nose, and owl-like eyes. Other findings may include abnormally small hands and feet with unusually prominent veins on the chest; irregular hyperpigmentation of the skin (poikiloderma); thinned hair (alopecia); small stature; and/or abnormally small jaw (micrognathia). Characteristics that develop later in life may i...

 GPT2 Deficiency OVERVIEW GPT2 deficiency (glutamate pyruvate transaminase 2 deficiency) is a genetic, neurological and metabolic disorder that results in intellectual disability and progressive motor dysfunction. This deficiency disrupts important biological processes necessary for proper brain growth. The developing brain relies on the creation and reinforcement of synapses, or connections, between neurons. This disease compromises those connections, resulting in fewer synapses and weaker brain circuits. GPT2 deficiency ultimately hinders brain development, causes metabolic abnormalities including deficiencies in metabolites that protect the nervous system, so patients tend to become more severely affected over time (neurodegenerative course). SYNONYMS alanine transaminase 2 (ALT2) deficiency neurodevelopmental disorder with spastic paraplegia and microcephaly autosomal recessive intellectual disability associated with GPT2 gene glutamate pyruvate transaminase 2 deficiency SYMPTO...

  Gorlin-Chaudhry-Moss Syndrome OVERVIEW Gorlin-Chaudhry-Moss syndrome is an extremely rare inherited disorder characterized by premature closure of the fibrous joints (sutures) between certain bones in the skull (craniosynostosis), unusually small eyes (microphthalmia), absence of some teeth (hypodontia), and/or excessive amounts of hair (hypertrichosis) on most areas of the body. Affected individuals may also exhibit a mild delay in physical development (growth retardation); short fingers and/or toes; and/or underdevelopment (hypoplasia) of the two long folds of skin on either side of the vaginal opening (labia majora) in females. In addition, there may be an abnormal opening between the two large blood vessels that carry blood away from the heart (pulmonary artery and aorta), causing inappropriate recirculation of some blood through the lungs, rather than throughout the rest of the body (patent ductus arteriosus). In some cases, mild mental retardation may also be present. It is...