Abstract：
:The adult endocrinologist may be asked to consult on a patient for unexplained biochemical disturbances that could be caused by an underlying inborn error of metabolism. A genetic disorder is generally less likely to be the cause as these disorders are individually rare, however inborn errors of metabolism are collectively not infrequent and important to consider as they may be treatable and tragic outcomes avoided. Hyperammonemia or lactic acidosis are most often secondary markers of an acquired primary disease process, but they may be a clue to the presence of a genetic disorder. Herein is presented an approach to the differential diagnosis of elevated ammonia and lactate, and a brief discussion of management for when an inborn error is diagnosed.
journal_name
Rev Endocr Metab Disordjournal_title
Reviews in endocrine & metabolic disordersauthors
Tchan Mdoi
10.1007/s11154-018-9444-5subject
Has Abstractpub_date
2018-03-01 00:00:00pages
69-79issue
1eissn
1389-9155issn
1573-2606pii
10.1007/s11154-018-9444-5journal_volume
19pub_type
杂志文章,评审abstract：:T3 suppression of TSH subunit gene transcription is an important step in maintaining thyroid hormone homeostasis, and recent investigations have increased our understanding of this process. Thyrotrope-specific proteins play a critical role in TSH subunit gene expression, and influence T3-mediated regulatory mechanisms...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1023/a:1010008318961
更新日期：2000-01-01 00:00:00
abstract：:The incidence of both type 2 and type 1 diabetes mellitus has been increasing worldwide. Vitamin D deficiency, or the awareness of its prevalence, has also been increasing. Vitamin D may have a role in the pathogenic mechanisms predisposing to type 2 diabetes by modulating insulin resistance and/or pancreatic β-cell f...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-016-9403-y
更新日期：2017-06-01 00:00:00
abstract：:Impulsivity and compulsivity are multidimensional constructs that are increasingly considered determinants of obesity. Studies using functional magnetic resonance imaging (fMRI) have provided insight on how differences in brain response during tasks exploring facets of impulsivity and compulsivity relate to the ingest...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-019-09515-x
更新日期：2019-09-01 00:00:00
abstract：:Weight gain at the outset of prolactinomas in many women is well documented. Yet, this symptom is absent from the clinical descriptions of the disease in textbooks and reviews. This omission is almost certainly due to the absence of a physiological explanation for the phenomenon, as prolactin is not a recognized fat p...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-019-09503-1
更新日期：2019-06-01 00:00:00
abstract：:Despite their critical role in susceptibility to metabolic diseases such as obesity and type 2 diabetes, mechanisms regulating energy balance are extremely complex and far from being fully understood. Both central and peripheral feedback circuits are involved and, despite it was traditionally thought that the energy b...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-020-09565-6
更新日期：2020-09-01 00:00:00
abstract：:Adiponectin is among the most studied adipokines, the collection of molecules secreted from adipose tissue. It is also one of the most architecturally complex adipokines with its various oligomeric states that include trimers, hexamers, nonamers (9mers), dodecamers (12mers), and octadecamers (18mers). The importance o...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-013-9256-6
更新日期：2014-06-01 00:00:00
abstract：:Lifestyle changes such as dietary habits, sedentary life and consumption of energy-dense foods that have occurred over the years has led to an epidemic of abdominal obesity, which in turn resulted in dramatic increase in the prevalence of metabolic syndrome (MetS). Different expert panels have provided various definit...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-013-9268-2
更新日期：2013-09-01 00:00:00
abstract：:The prevalence of convenience-driven delivery via Caesarian-section (C-section) has been steadily increasing in Western as well as in developing societies. Today, significantly more deliveries occur via surgical means than medical necessity mandates. Despite tremendous advances in surgical techniques and pre- and post...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-013-9262-8
更新日期：2013-12-01 00:00:00
abstract：:Diabetes mellitus is a chronic, progressive, incompletely understood metabolic disorder whose prevalence has been increasing steadily worldwide. Even though little attention has been paid to lung disorders in the context of diabetes, its prevalence has recently been challenged by newer studies of disease development. ...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-019-09516-w
更新日期：2019-09-01 00:00:00
abstract：:Diabetes is a group of metabolic disorders characterized by persistent hyperglycemia and has become a major public health concern. Autoimmune type 1 diabetes (T1D) and insulin resistant type 2 diabetes (T2D) are the two main types. A combination of genetic and environmental factors contributes to the development of th...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-015-9309-0
更新日期：2015-03-01 00:00:00
abstract：:Coronary artery disease (CAD) continues to be the most common cause of morbidity and mortality in patients with diabetes mellitus (DM). In recent years, the strategies for treatment of CAD in DM have undergone much evolution. Currently, all patients with DM, regardless of symptoms or diagnosed CAD, are treated aggress...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-010-9129-1
更新日期：2010-03-01 00:00:00
abstract：:This paper provides evidence that primary aldosteronism is likely much less common than is believed by the other authors of this collection. The basis for this contrarian view is simple: there is no way to know the true prevalence of PA because of the uncertain validity of all of the diagnostic procedures used to find...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-011-9160-x
更新日期：2011-03-01 00:00:00
abstract：:A clustering of metabolic abnormalities such as dyslipidemia, hypertension, and diabetes mellitus, all of which are major risk factors for cardiovascular disease (CVD), occurs more often than by chance. Numerous epidemiological studies, as well as basic researches, have revealed that visceral fat accumulation is close...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-014-9294-8
更新日期：2014-12-01 00:00:00
abstract：:Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders characterized by androgen excess, oligo-ovulation and polycystic ovaries. Although ovaries are the main source of increased androgens in the syndrome, between 20 and 30% of patients with PCOS have adrenal androgen (AA) excess, detectable pr...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-007-9054-0
更新日期：2007-12-01 00:00:00
abstract：:An emerging branch of research is examining the linkage between Vitamin D and nonskeletal disorders, including endocrine diseases. In this regard, a still little studied aspect concerns the involvement of vitamin D in adrenal gland disorders. Adrenal gland disorders, which might be theoretically affected by vitamin D ...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-016-9391-y
更新日期：2017-09-01 00:00:00
abstract：:It is widely acknowledged that compliance and persistence with oral osteoporosis medications, particularly with bisphosphonates, is poor. Several excellent reviews have been written on compliance and persistence with osteoporosis medications and have discussed improvements seen with extended dosing intervals. This rev...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-010-9138-0
更新日期：2010-12-01 00:00:00
abstract：:Methionine and folate are the key components of one carbon metabolism, providing the methyl groups for numerous methyl transferase reactions via the ubiquitous methyl donor, s-adenosyl methionine. Methionine metabolism is responsive to nutrient intake, is regulated by several hormones and requires a number of vitamins...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-012-9215-7
更新日期：2012-06-01 00:00:00
abstract：:Endothelial dysfunction associated with diabetes and cardiovascular disease is characterized by changes in vasoregulation, enhanced generation of reactive oxygen intermediates, inflammatory activation, and altered barrier function. These endothelial alterations contribute to excess cardiovascular disease in diabetes, ...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-013-9239-7
更新日期：2013-03-01 00:00:00
abstract：:Vitamin D deficiency is highly prevalent among children and adolescents worldwide. The high rates of vitamin D deficiency during childhood are of major public health relevance, given the growing evidence that vitamin D deficiency may play a key role in the pathophysiology of many chronic diseases beyond rickets, inclu...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-007-9072-y
更新日期：2008-06-01 00:00:00
abstract：:Management of patients with ACTH producing pituitary adenoma remains to be challenging. Removal of the pituitary adenoma through transsphenoidal surgery is the main stay of treatment. Complete resection of the adenoma is followed by the development of ACTH deficiency since the normal corticotrophs are suppressed by th...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-010-9140-6
更新日期：2010-06-01 00:00:00
abstract：:The skeletal muscle is one of the major target organs of insulin and plays an essential role in insulin-induced glucose uptake. Some evidence indicates that insulin delivery to skeletal muscle interstitium through the endothelial cells is the rate-limiting step in insulin-stimulated glucose uptake. Researchers have al...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-013-9242-z
更新日期：2013-06-01 00:00:00
abstract：:The incidence of neuroendocrine tumors (NET) increases with age. Lately, the diagnosis of NET was mainly caused by early detection of small NET (<1 cm) in the rectum and stomach, which are depicted by chance during routine and prophylactic endoscopy. Also in patients with large and metastatic pancreatic and intestinal...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-018-9469-9
更新日期：2018-06-01 00:00:00
abstract：:An increasingly pervasive environment of reduced activity and easy access to high caloric food is leading to an epidemic of poor cardiovascular fitness, obesity, insulin resistance and type 2 diabetes (T2DM) in children. Studies have shown that insulin resistance (IR) to be an independent predictor for morbidity as we...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-009-9109-5
更新日期：2009-09-01 00:00:00
abstract：:Celiac disease is a chronic enteropathy caused by permanent intolerance to gluten and similar proteins found in wheat, barley and rye. The intestinal mucosa of susceptible individuals is crossed by undigested gluten, which leads to a marked inflammatory response. The clinical features may vary from overt intestinal sy...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-007-9069-6
更新日期：2008-06-01 00:00:00
abstract：:Deleterious mutations in two breast and ovarian cancer susceptibility genes, BRCA1 and BRCA2 have been identified in breast and ovarian cancer families. Women with a BRCA1 or BRCA2 mutation are candidates for additional risk reduction measures such as intensive screening, prophylactic surgery or chemoprevention. Addit...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-007-9038-0
更新日期：2007-09-01 00:00:00
abstract：:The peak in incidence for schizophrenia is during late adolescence for both sexes, but within this time frame the peak is both earlier and steeper for males. Additionally, women have a second peak in incidence following menopause. Two meta-analyses have reported that men have an overall ∼40% greater chance of developi...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-011-9184-2
更新日期：2012-09-01 00:00:00
abstract：:Vitamin D is a key hormone involved in the regulation of calcium/phosphorous balance and recently it has been implicated in the pathogenesis of sub-inflammation, insulin resistance and obesity. The two main forms of vitamin D are cholecalciferol (Vitamin D3) and ergocalciferol (Vitamin D2): the active form (1,25-dihyd...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-017-9423-2
更新日期：2017-06-01 00:00:00
abstract：:Intrauterine growth retardation (IUGR) has been linked to later development of type 2 diabetes in adulthood. Human studies indicate that individuals who were growth retarded at birth have impaired insulin secretion and insulin resistance. Multiple animal models of IUGR demonstrate impaired beta-cell function and devel...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-007-9045-1
更新日期：2007-06-01 00:00:00
abstract：:Ectopic Cushing's syndrome usually relates to the ectopic ACTH syndrome (EAS) and represents ∼20% of ACTH-dependent and ∼10% of all types of Cushing's syndrome (CS). Nearly any neuroendocrine or non-endocrine tumours may be associated with EAS, but the more prevalent tumours are bronchial carcinoids, small cell lung c...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-010-9139-z
更新日期：2010-06-01 00:00:00
abstract：:Abnormalities in thyroid function are common endocrine disorders that affect 5-10 % of the general population, with hypothyroidism occurring more frequently than hyperthyroidism. Clinical symptoms and signs are often nonspecific, particularly in hypothyroidism. Muscular symptoms (stiffness, myalgias, cramps, easy fati...
journal_title：Reviews in endocrine & metabolic disorders
pub_type： 杂志文章,评审
doi：10.1007/s11154-016-9357-0
更新日期：2016-12-01 00:00:00
