Clinical And Metabolic Features Of Non Hiv Related In Patients With Age At Onset Of Lipodystrophy < 18

The mother, who is a carrier, inherits an X-Linked or sex-linked faulty gene. The result is producing an affected son and or a daughter being a carrier. The second way is an affected male producing children, particularly daughters. All daughters born to fathers with x-linked muscular dystrophy will be carriers; on the contrary their sons will be unaffected. Scientists link this to a genetic mutation in the gene, appearing most often for the first time in a family.

A child with progeria does not show symptoms at birth; however, within the first two years the disease will make itself known. Signs of progeria include growth failure, loss of body fat and hair, aged-looking skin, stiffness of joints, hip dislocation, generalized atherosclerosis (the buildup of fat and cholesterol in the arteries), cardiovascular (heart) disease and stroke. Despite differences in ethnic

However, there are cases in which adolescents that may not do as much physical activities also develop this disease. There is no need to worry too much about it though. If you know how it works, you can be assured of

Children can reduce the risk of being diagnosed with type 2 diabetes by changing their eating habits and participate in physical activity. Weight in children has become a great concern because more children are becoming overweight or obese, hence increases the number of cases of children being exposed for pre-diabetes or already have the disease. According to Wilson, type 2 diabetes is more common in individuals with a family history of diabetes and in young female adults (2013). Furthermore, when children are diagnosed with this disease it places them more at risk for other non-communicable diseases such as heart disease. Hence, they are at higher risk for cardiovascular disease and blindness. Children with the presence of insulin resistance have a high risk for type 2 diabetes. Most of the children affected are minority overweight children (International Journal of Obesity, 2009).

The diagnosis of the inherited metabolic disorders is conducted by routine testing and is normally present at childbirth. Although this test is not conducted at childbirth many states are improving there testing systems with use of improved technology. Thus, if the disorder is not detected at birth may go undiagnosed until the symptoms present themselves on the patient, then a blood or DNA test can be conducted to find out what type of disorder it is.

Polycystic ovarian syndrome (PCOS) is a heterogeneous collection of signs and symptoms that together for a spectrum disorder with a mild presentation in some but a severe in others. The pathophysiology of PCOS appears to be multifactorial and polygenic. (Fox, 2011)

OSA is a relatively common condition, with an estimated prevalence of 1% to 3% in otherwise healthy children. The risk of OSA is greatly increased by obesity in children, with an estimated prevalence of 36% in obese children. The prevalence in obese patients with snoring or other signs of apnea is estimated to be much higher. Many severely obese children do not have OSA, indicating that different fat distribution phenotypes may exist. The determination of fat distribution may identify

Autosomal dominant LGMD occur less often than recessive dominant LGMD. In the metabolism myotilin gene mutations occur, it may be due to a deficiency of vitamin B12, vitamin E, folate or exposures to nitrous oxide. LGMD 1A disease normally occurs from the age 42 to 77, and develops in the same areas (hip, shoulder and back) however, it could spread to the leg muscles. Due to the fact that myotilin gene is mutated, it causes focal myofibrillar destruction to occur, and this results in intracytoplasmic deposits to float around in the blood stream. In one case study done in Barcelona in 2011, there were 13 patients who were all diagnosed with myotilin gene mutation disease. The results showed that the deposits of myofibrillar became immune to myotilin and cluster up the vacuoles and interfere with the Z-lines. Overall the study revealed that each patient shared the same phenotypic characteristics, LGMD 1A and myofibrillar myopathy variations which emphasizes that LGMD is a developing neuromuscular disorder (Montse,

Hutchinson-Gilford Progeria Syndrome (HGPS) affects approximately 1 in 4-8 million newborns. It is characterized by rapid aging, but no symptoms are seen at birth. Within a year, infected children start showing symptoms such as a receding jaw, pointy nose, partial to total hair loss (alopecia), fat loss, bone disfigurements, a short stature and skin problems (Pollex 2004). The disease progresses with time, and eventually leads to death at an average age of about 13 years. Death is usually caused by some form of cardiovascular disease, usually induced by atherosclerosis (Wuyts et al. 2005). Most cases of HGPS are due to de novo autosomal dominant point mutations in the lamin A/C gene (LMNA). There are some reported cases suggesting autosomal recessive inheritance, but further testing needs to be performed.

Polycystic Ovarian Syndrome also known as Stein-Leventhal Syndrome, occurs in 5% to 10% of women and is one of the causes of infertility. PCOS is observed by ultrasound as a number of small cysts on a woman’s ovary, and it’s

Nidhi Gupta MD: 2nd year Pediatric Endocrinology fellow with clinical research and systematic reviews/meta-analysis focused on childhood obesity, lipodystrophy, patient education and quality improvement. Completed medical school

Duchenne Muscular Dystrophy is the most common form of MD that usually affects children. It has accounted for over 50% of all muscular dystrophy cases, occurring at a frequency of 1 in 3,500 new born males (NCBI 2016). Boys are the main victim of this disease, however symptoms can be shown and experienced by girls and women who carry the defective DMD gene (NIH 2016). It is a terrible disease that is progressive and has a rapid onset. The DMD gene is big in size which makes it an easy

Glucose Transporter-1 (GLUT1) Deficiency Syndrome is a relatively novel disorder. Studies highlighting the biological origin and impact of GLUT1 Deficiency have only recently been conducted, the disorder was first described by Dr. De Vivo in 1991 (Aktas et al., 2010; De Vivo, Leary, & Wang, 2002). Although rare, there have been studies conducted highlighting the causes and impact of the syndrome. Wilhelmina Leen, one of the authors of An Analysis of Glucose Transporter 1, collected genetic data from fifty-seven different patients that suffer from GLUT-1 Deficiency Syndrome. Leen as well as her co-authors work have opened new insights into better understanding the source as well as treatments for GLUT1 Deficiency syndrome. However, to

Gaucher’s disease which is also identified as glucocererbrosidase deficiency, this happens when the lipid, glucosylceramide, builds up in bone marrow, lungs, spleen, liver and sometimes the brain. It’s a hereditary disease. When the lipid as mentioned earlier is faulty glucosylceramide accumulates more commonly in the microphages which is a type of white blood cell.

Everybody knows the child that can eat any type of food all day and never seem to gain weight. This occurrence has led researchers to investigate the role that genetics plays in childhood obesity. Not all children who are inactive or who eat poorly are obese, much in the same way that some obese children eat fairly healthy, and exercise moderately. Heredity has recently been shown to influence body fat percentage, regional fat storage, and the body?s response to overeating (Rush, 1). Children who have obese parents are 80% more likely to be obese than their lean parented counterparts (Buffington, 16). This familial correlation is contributed to genetics as well as the parents eating habits. Children with obese parents typically aren?t taught the correct way to choose when and what food to eat, leading to poor eating habits and eventually obesity. Many genetic defects can have a significant effect on obesity such as variable thyroid activity and pituitary defects. Abnormalities in any one of these regulators could be responsible for appetite abnormalities and weight gain. Furthermore, obesity leads to defects in appetite regulation, hormone production, and metabolic events (Oklahoma Cooperative, 4) that are responsible for further weight gain,