Hyperglycinemia

Hyperglycinemia refers to a metabolic condition where glycine is elevated in the blood.

Two Types include:

• Propionic acidemia, also known as "ketotic glycinemia"
• Glycine encephalopathy, also known as "non-ketotic hyperglycinemia"

Each specific type has its own set of symptoms.

Symptoms

A few of the symptoms relating to the condition include spasticity, seizures, involuntary muscle contractions, hiccups, poor feeding, lethargy, intellectual disabilities, apnea, listlessness, failure to thrive, reduced muscle tone, and many more. Each of these symptoms pertains to hyperglycinemia as a whole and its two types.^[1]

Misdiagnosis

Unfortunately, this condition also has many misdiagnosis that are related to it. Some of the related conditions that get misdiagnosis when patients with hyperglycinemia are evaluated are: hypertension, type 1 and 2 diabetes, high cholesterol, depression, cancer, and heart disease.^[1]

History

Hyperclycinemia was first found in 1957, but it wasn't diagnosed until 1961 at Johns Hopkins hospital in Philadelphia. Eric, the little boy who led to the discover of the condition was born he began experiencing a number of different severe health conditions. Each of these conditions caused him to have excess acidity and ketones in his blood, and luckily for him he responded well to intravenous fluids. The physicians and other medical care givers who were taking care of him were using all the tools they had to help figure out what was causing him to be so ill. One of the tests they used on Eric was an amino acid analysis. This analysis showed the medical providers that the little boy had high levels of amino acid glycine in the blood. The doctors at Johns Hopkins were still unaware of what these high levels of glycine meant, so Eric ended up moving to New York with his parents to be closer to Johns Hopkins. Eric, became a regular patient at Johns Hopkins due to his worsening condition. However, after a lot of trial and error testing Dr. Barton Childs realized that Eric became worse after given these five specific amino acids leucine, isoleucine, valine, theronine, and methionine. When Eric was consuming a diet with any of these amino acids his glycine levels dropped. Finally, after extensive research the medical team at Johns Hopkins published Eric's condition in 1961.^[2]

Related condition

• Hyperglycemia or high blood sugar, a condition in which an excessive amount of glucose circulates in the blood plasma

References