Related Experiment Video
Updated: Mar 24, 2026
09:44
Evaluation of Hepatic Glucose Production in a Polycystic Ovary Syndrome Mouse Model
Published on: March 5, 2022
3.5K
Nonketotic hyperglycinemia case series.
Mehtab Iqbal1, Manish Prasad1, Santosh R Mordekar2
1Department of Paediatric Neurology, Leicester Royal Infirmary, Leicester, UK.
Journal of Pediatric Neurosciences
|March 11, 2016
Summary
Neonatal hiccups can be an early sign of nonketotic hyperglycinemia (NKH), a rare metabolic disorder. Early diagnosis through prompt investigation is crucial for managing this condition and informing genetic counseling.
Area of Science:
- Biochemistry
- Neonatology
- Genetics
Background:
- Nonketotic hyperglycinemia (NKH) is a rare inborn error of metabolism.
- Neonatal presentation of NKH can be varied, posing diagnostic challenges.
Observation:
- Three neonates presented with persistent hiccups as a primary symptom.
- Clinical manifestations included hypotonia, poor feeding, abnormal movements, and apnea.
Findings:
- All three cases were diagnosed with nonketotic hyperglycinemia after extensive investigations.
- Diagnostic workup involved metabolic screening, neuroimaging, and electroencephalography.
Implications:
- Early recognition of neonatal hiccups as a potential NKH symptom is vital.
- Timely diagnosis impacts treatment decisions, prognosis, and genetic counseling for future pregnancies.
Related Concept Videos
01:20Inborn Errors of Metabolism
1.0K
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...
1.0K
01:15Hypoglycemia and Glucagon
1.3K
Without prolonged fasting, healthy individuals maintain blood glucose levels above 3.5 mM due to a well-adapted neuroendocrine counterregulatory system that effectively prevents acute hypoglycemia, a potentially life-threatening condition. The primary clinical scenarios for hypoglycemia encompass diabetes treatment, inappropriate production of endogenous insulin or insulin-like substances by tumors, and the use of glucose-lowering agents in non-diabetic individuals. Notably, hypoglycemia in the...
1.3K
01:22Diabetes Mellitus: Overview and Type I Subtype
5.9K
Diabetes mellitus is a chronic metabolic disorder characterized by high blood glucose levels due to inadequate insulin production, insulin resistance, or both. The condition affects millions worldwide and can significantly impact their health and quality of life.
Type 1 diabetes is an autoimmune disease in which the immune system mistakenly attacks and destroys the insulin-producing beta cells in the pancreas. As a result, the body is unable to produce sufficient insulin, and individuals with...
Type 1 diabetes is an autoimmune disease in which the immune system mistakenly attacks and destroys the insulin-producing beta cells in the pancreas. As a result, the body is unable to produce sufficient insulin, and individuals with...
5.9K
01:27Glucose Transporters
28.2K
Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
28.2K
01:15Diabetes: Symptoms, Diagnosis, and Complications
2.7K
For most patients, experiencing several weeks of polyuria, polydipsia, fatigue, and significant weight loss may indicate the presence of diabetes. Furthermore, adults displaying the phenotypic appearance of type 2 diabetes (particularly those who are obese and not initially insulin-requiring), may have islet cell autoantibodies, suggesting autoimmune-mediated β cell destruction and a diagnosis of latent autoimmune diabetes of adults (LADA). The categorization of glucose homeostasis is...
2.7K
01:22Diabetes Mellitus: Type 2 and Gestational
5.4K
Type 2 diabetes, characterized by insulin resistance, arises when the insulin receptors on cells lose responsiveness to insulin, diminishing the cell's capacity to take up glucose, resulting in elevated blood glucose levels. To receive a diagnosis of Type 2 diabetes, a series of blood glucose tests are necessary to assess whether the blood glucose falls within normal parameters. If the result is out of the normal range, a patient may be diagnosed as prediabetic or diabetic, depending on the...
5.4K