What mimics diabetic ketoacidosis?
Hyperglycemia is a rare but fatal manifestation of MMA, which mimics DKA. [16,17] Although hyperglycemia is an unusual presentation for MMA, Boeckx and Hicks, Guven et al. and Kumar and Suthar reported cases with severe and persistent metabolic acidosis and hyperglycemia, despite large doses of insulin.
Is diabetes an IEM?
Inborn errors of metabolism (IEM) are heterogeneous group of disorders that might present in the clinics or emergency departments in different phenotypes, and one of these is a diabetes scenario. Diabetes is the most common endocrine disorder among children.
What can mimic ketoacidosis?
DKA can easily be misdiagnosed because clinical features usually mimic infectious diseases [2-4], surgical emergencies such as acute abdomen, bowel perforation, appendicitis and ruptured ectopic pregnancy [6-8].
What metabolic disorder is most commonly associated with glycosuria and Ketonuria?
When your body has low insulin levels, your cells can’t store or use glucose for energy. This results in high blood sugar or diabetes. Ketonuria is common in people with diabetes, as their body tries to eliminate excess ketones through urine. Renal glycosuria.
What is hyperosmolar hyperglycemic syndrome?
Diabetic hyperglycemic hyperosmolar syndrome (HHS) is a complication of type 2 diabetes. It involves extremely high blood sugar (glucose) level without the presence of ketones.
What is the mortality rate for diabetic ketoacidosis?
A total of 835 deaths were found among DKA patients, with a mortality rate of 0.38%. The overall mortality rate was higher among males admitted with DKA (40.5 deaths per 10,000 cases of DKA) than females (35.3 deaths per 10,000 cases of DKA).
What are the chances of surviving diabetic ketoacidosis?
The overall mortality rate for DKA is 0.2-2%, with persons at the highest end of the range residing in developing countries. The presence of deep coma at the time of diagnosis, hypothermia, and oliguria are signs of poor prognosis.
Can methylmalonic acidemia be cured?
There is no specific treatment for methylmalonic acidemia. Treatment is focused on managing the symptoms. Options include: Aggressive treatment of decompensation events.
Is methylmalonic acidemia fatal?
Methylmalonic acidemia stems from several genotypes, all forms of the disorder usually diagnosed in the early neonatal period, presenting progressive encephalopathy, and secondary hyperammonemia. The disorder can result in death if undiagnosed or left untreated.
What is the treatment for methylmalonic acidemia?
Methylmalonic acidemia is caused by changes in several different genes and is inherited in an autosomal recessive fashion. Treatment includes aggressive management of decompensation events, a low-protein diet, certain medications, antibiotics and, in some cases, liver and kidney transplantation.
What is methylmalonic acidemia (MMA)?
Methylmalonic acidemia (MMA) encompasses a heterogeneous group of disorders that is characterized by impaired metabolism of methylmalonic acid that is generated during the metabolism of certain amino acids (isoleucine, methionine, threonine, or valine).[1]
Is methylmalonic acidemia a risk factor for food safety?
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias.
What is the prognosis of methylmalonic acidemia?
Prognosis Prognosis. The effects of methylmalonic acidemia (MMA) vary from mild to life-threatening, and therefore the prognosis and life expectancy may differ significantly among affected individuals. Affected individuals can die in the newborn period or during a later episode of metabolic decompensation.