Related Experiment Video
Updated: Jun 2, 2026
03:45
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Cardiac involvement in nonketotic hyperglycinemia
Ibraheem Al-Shareef1, Mariam Arabi, Omar Dabbagh
11Division of Pediatric Neurology, Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
Journal of Child Neurology
|April 30, 2011
Summary
Nonketotic hyperglycinemia, a disorder of glycine metabolism, may also affect the heart. This study reports cardiac dysfunction in an infant with this condition, suggesting potential underdiagnosis of myocardial involvement.
Area of Science:
- Biochemistry
- Genetics
- Cardiology
Background:
- Nonketotic hyperglycinemia is an inherited metabolic disorder.
- It is characterized by glycine accumulation in bodily fluids.
- Primarily impacts the central nervous system.
Observation:
- An infant with nonketotic hyperglycinemia presented with progressive left ventricular hypertrophy and dysfunction.
- The patient's sibling reportedly died of dilated cardiomyopathy.
- This suggests a potential link between nonketotic hyperglycinemia and cardiac issues.
Findings:
- This study highlights a potential association between nonketotic hyperglycinemia and myocardial involvement.
- Cardiac dysfunction, including left ventricular hypertrophy, was observed in the affected infant.
- The findings suggest that cardiac complications may be under-recognized in this disorder.
Implications:
- Glycine accumulation may play a role in cardiac dysfunction.
- A cardiac evaluation is recommended for individuals diagnosed with nonketotic hyperglycinemia.
- Further research is needed to understand the incidence and mechanisms of cardiac involvement.
Related Concept Videos
01:22Diabetic Ketoacidosis ll: Pathophysiology
Diabetic ketoacidosis (DKA) is a metabolic emergency characterized by hyperglycemia, ketonemia, and metabolic acidosis. It results from severe insulin deficiency and an excess of counterregulatory hormones, leading to uncontrolled lipolysis, ketogenesis, and widespread electrolyte and fluid disturbances.Pathophysiology The central event in DKA is a profound loss of insulin action. Without insulin, glucose uptake in insulin-dependent tissues is impaired, while hepatic glucose production...
01:20Inborn Errors of Metabolism
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
01:25Diabetic Ketoacidosis l: Introduction
DefinitionDiabetic ketoacidosis (DKA) is an acute, life-threatening complication of diabetes mellitus, characterized by a triad of hyperglycemia (blood glucose >250 mg/dL), ketonemia or ketonuria, and metabolic acidosis (arterial pH <7.30 and serum bicarbonate <18 mEq/L). It results from insulin deficiency combined with elevated levels of counterregulatory hormones—glucagon, catecholamines, cortisol, and growth hormone—leading to increased lipolysis, hepatic ketone production, and...
01:28Diabetic Nephropathy
Definition Diabetic nephropathy is a chronic kidney complication that results from prolonged hyperglycemia.Prevalence It is the most common cause of chronic kidney disease (CKD) and end-stage renal disease (ESRD) worldwide, affecting up to half of individuals with diabetes.Pathophysiology • Sustained hyperglycemia triggers multiple hemodynamic and metabolic changes in the kidney. • Early in the disease, increased renal blood flow and glomerular hyperfiltration occur due to afferent arteriolar...
01:29Hyperglycemia
Hyperglycemia is an abnormally high blood glucose level. It is diagnosed by fasting glucose ≥126 mg/dL, 2-hour oral glucose tolerance test (or OGTT) ≥200 mg/dL, random glucose ≥200 mg/dL with symptoms, or HbA1c ≥6.5%. However, HbA1c results may be unreliable in certain conditions, such as anemia or hemoglobinopathies, and the diagnosis should be confirmed unless classic symptoms are present. Postprandial hyperglycemia is typically considered significant when glucose levels exceed 180 mg/dL two...
01:26Heart Failure Drugs: Inotropic Agents
Positive inotropic agents are commonly used as the first line of treatment for heart failure. One such agent is digoxin, derived from the genus Digitalis, which has been known for centuries but effectively utilized since 1785. However, these cardiac glycosides can have potentially toxic effects due to their mechanism of action, which involves inhibiting Na+/K+-ATPase and increasing contractility. Digoxin is absorbed orally and distributed in various tissues, including the CNS. It has a long...