The Metabolic Disorders Program provides a full range of consultative, diagnostic and management services for pediatric and adult patients with inherited metabolic disorders. Diagnostic testing is available for patients detected by newborn screening, as well as those who display symptoms in adolescence or maturity. Our clinical team of physicians, nurses and dieticians provides families with diagnosis, treatment, counseling and follow-up care in a supportive environment.
As clinical management of inherited metabolic diseases IMDs has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions.
If your institution subscribes to this resource, and you don't have a MyAccess Profile, please contact your library's reference desk for information on how to gain access to this resource from off-campus. As patients diagnosed in childhood grow older, the emphasis shifts from their growth and development to dealing with long-term complications and living with a chronic condition. For those patients who first present in adulthood, diagnosis may be delayed as awareness of metabolic disease is generally not as high among general adult physicians as among paediatricians.
Inborn errors of metabolism IEM can have their onset in adolescence or in adulthood. Although it is difficult to contribute exact data on prevalence -because there are few studies in this respect, and IEM are regarded as infrequent- their detection is important due to the possibilities for therapy and family genetic counselling. The main symptoms of IEM in the adult are neurological, followed by hepatic. Two basic modes of onset can be established.
Background : The increase number of the metabolic syndrome MetS among young adults was mostly caused by obesity. The blood samples used to test fasting blood glucose, total cholesterol, high-density lipoprotein, and triglyceride were examined in Department of Clinical Pathology, Cipto Mangunkusumo Hospital after fasting for 14 to 16 hours. Univariate and bivariate analysis were done.
A metabolic disorder can happen when abnormal chemical reactions in the body alter the normal metabolic process. Some of the symptoms that can occur with metabolic disorders are lethargyweight lossjaundice and seizures. The symptoms expressed would vary with the type of metabolic disorder.
What is metabolism? A few major examples of metabolism include: Breaking down the carbohydrates, proteins and fats in food to release energy. Transforming excess nitrogen into waste products excreted in urine.
The Inherited Metabolic Diseases program focuses on delivering advanced clinical and diagnostic services for children and adults affected by the inborn of metabolism. We provide complete diagnostic evaluations, testing, interpretation of test results, and long-term medical and nutritional management. As one of the largest Newborn Screening Referral Centers in the United States, we also hold the distinction of being the leading referral center in our region for the evaluation of those suspected of having inborn errors of metabolism. We are one of the largest in the country dedicated to the understanding, prevention, treatment, and cure of genetic diseases and birth defects, committed to providing outstanding medical care for patients with inherited metabolic diseases as well as researching and developing new, improved therapies for these conditions.
In non-diabetic adult patients, hypoglycaemia may be related to drugs, critical illness, cortisol or glucagon insufficiency, non-islet cell tumour, insulinoma, or it may be surreptitious. Nevertheless, some hypoglycaemic episodes remain unexplained, and inborn errors of metabolism IEM should be considered, particularly in cases of multisystemic involvement. In children, IEM are considered a differential diagnosis in cases of hypoglycaemia. In adulthood, IEM-related hypoglycaemia can persist in a previously diagnosed childhood disease.