image by: National Human Genome Research Institute

HWN Suggests

Metabolic Crisis - The ED Doc’s Approach

When I think of inborn errors of metabolism, I immediately begin to hyperventilate and feel as though I am back in the library in medical school frantically trying to study for Step 1. But then I remember: “I’m an emergency medicine doctor, and it’s less important that I remember that the enzyme branched-chain alpha blah blah blah is deficient in the autosomal something maple syrup urine disease, and more important that I remember how to recognize and subsequently stabilize these patients when they come into my department in metabolic crisis.” And even luckier for me, it’s actually pretty straightforward so long as you know what labs to order and how to respond to them.

read full article

Featured

 Inborn Errors of Metabolism

Patients with inborn errors of metabolism may present in two different time periods: the neonatal period and months to years after birth. Neonatal presentations correlate with an absence of or complete block of the metabolic pathway, while presentations later in life are usually due to a partial or incomplete blockage of the affected pathway.

 Metabolic Babies in the ED.. Easy As 1.. 2.. 3

Inborn errors of metabolism (IEMs) are disorders of chemical pathways. These diseases led to dangerous deficiencies or excesses of chemicals. While each individual IEM is rare, together they form a significant burden of disease to children. When it comes to metabolic problems in small children, it is easy to assume that this is a specialist area. It may be scary but it is so simple that I guarantee that nothing in this post is complicated or difficult to remember. In fact there are really only three things to know about children’s inborn errors of metabolism. That’s right, just three. Let’s start with the hardest one in practice.

 Metabolism gone wild!

Inborn errors of metabolism present non-specifically. Always consider IEM when presented with unwell neonate or infant. For critically ill presentations, IEMs can be broken down into 2 main categories: Toxin Accumulation and/or Deficient Energy.

Articles of Interest

Acute Metabolic Emergencies in the PICU

Be vigilant. Assume an inborn error of metabolism unless proven otherwise. Be aware of late presentations of inborn errors of metabolism.

ED Management of Inborn Errors of Metabolism

Inborn errors of metabolism can present with a variety of nonspecific signs and symptoms. While individually rare, as a class of disorders they are not uncommon and should be recognized and treated appropriately by emergency physicians

Endocrine and metabolic emergencies in children: hypocalcemia, hypoglycemia, adrenal insufficiency, and metabolic acidosis including diabetic ketoacidosis

It is important to fast diagnosis and management of the pediatric patients of the endocrine metabolic emergencies because the signs and symptoms of these disorders are nonspecific. Delayed diagnosis and treatment may lead to serious consequences of the pediatric patients,

Evidence-Based Management Of Metabolic Emergencies In The Pediatric Emergency Department

The topic of metabolic emergencies is a broad one, even when the least inclusive definition is used. For the sake of this discussion, a metabolic disorder is defined as a disease process that results from an error in the metabolism of carbohydrates, fats, amino acids, or cholesterol. This definition overlaps with that of disorders that are endocrine in nature, including diabetes mellitus and adrenal insufficiency (AI).

Metabolic Emergencies - Part 1

Patients with metabolic diseases often have symptoms similar to those of other (infectious, neurologic, toxicological) emergencies, particularly as newborns and infants.

Metabolic Emergencies - Pediatric

Pediatric endocrine and metabolic emergencies...

Metabolic emergencies and the emergency physician

Fifty percent of inborn errors of metabolism are present in later childhood and adulthood, with crises commonly precipitated by minor viral illnesses or increased protein ingestion. Many physicians only consider IEM after more common conditions (such as sepsis) have been considered. In view of the large number of inborn errors, it might appear that their diagnosis requires precise knowledge of a large number of biochemical pathways and their interrelationship. As a matter of fact, an adequate diagnostic approach can be based on the proper use of only a few screening tests.

Metabolic Emergencies in Kids! (Part I)

Inborn errors of metabolism (IEM) are rare, each typically affecting 1 in 5000 to 1 in 100,000 children, BUT collectively these disorders are more common because there are so many. If you are lucky…when they present to the ED they come with a letter from Dr. Greene (our world renowned metabolic geneticist) detailing exactly what to do. The rest of the time…you are on your own.

Metabolic emergencies in newborns

In most metabolic patients, part of their metabolic pathway is impaired, and giving glucose can cause the problem to be bypassed or, in other words, eliminated. If the baby is hypoglycemic, you can use rule 50. Rule 50 states that for newborns, you can give 5 ml per kilogram of D10. For multi-month-old babies, you can give 2 ml per D25 kg, and for babies and adolescents you can give 1 ml for every D50 kg.