Browsing Pathways

The T helper cells (Th cells) are a type of T cell that play an important role in the immune system, particularly in the adaptive immune system. They help the activity of other immune cells by releasing T cell cytokines. These cells help suppress or regulate immune responses. They are essential in B cell antibody class switching, in the activation and growth of cytotoxic T cells, and in maximizing bactericidal activity of phagocytes such as macrophages.

Sulfite oxidase deficiency (SOD) is a disorder, an autosomal recessive disease. In classic SOD, it is usually identified a few days after the birth of an affected individual, and is recognizable through characteristic dysmorphic features, seizures, and other signs of progressive encephalopathy. Patients also have ocular lenses that are dislocated, and usually die within a few months of being born. In late- onset SOD, the disorder is identified only in the later months, usually 6-18 months, of the child’s life by a delay or regression of neurological progress. This disorder is very rare, but the actual prevalence is not known. It can be diagnosed through a sulfite test strip in urine or by a skin fibroblast culture, which will indicate an absence of sulfite oxidase.

Sulfite oxidase deficiency (SOD) is a disorder, an autosomal recessive disease. In classic SOD, it is usually identified a few days after the birth of an affected individual, and is recognizable through characteristic dysmorphic features, seizures, and other signs of progressive encephalopathy. Patients also have ocular lenses that are dislocated, and usually die within a few months of being born. In late- onset SOD, the disorder is identified only in the later months, usually 6-18 months, of the child’s life by a delay or regression of neurological progress. This disorder is very rare, but the actual prevalence is not known. It can be diagnosed through a sulfite test strip in urine or by a skin fibroblast culture, which will indicate an absence of sulfite oxidase.

Congenital sucrase-isomaltase deficiency is a rare inborn error of metabolism (IEM) and autosomal recessive disorder caused by mutatins in the SI gene which encodes for the enzyme sucrase-isomaltase. Sucrase-isomaltase catalyzes the breakdown of sucrose, maltose and larger carbohydrates. Sucrose and maltose are disaccharides, and are broken down into simple sugars during digestion. Sucrose is broken down into glucose and fructose, while maltose is broken down into two glucose molecules. This disorder is characterized by stomach cramps, bloating, excess gas production, and diarrhea after ingestion of sucrose and maltose. These digestive problems can lead to failure to thrive and malnutrition. There is no cure for Sucrase-Isomaltase Deficiency, however orally administrated Sacrosidase can help relieve symptoms. Similarly, restricting high sugar diets can also help. Most affected children are better able to tolerate sucrose and maltose as they get older. Frequency of Sucrase-Isomaltase Deficiency is about 1 in 5,000 with European descent. 

Congenital sucrase-isomaltase deficiency is a rare inborn error of metabolism (IEM) and autosomal recessive disorder caused by mutatins in the SI gene which encodes for the enzyme sucrase-isomaltase. Sucrase-isomaltase catalyzes the breakdown of sucrose, maltose and larger carbohydrates. Sucrose and maltose are disaccharides, and are broken down into simple sugars during digestion. Sucrose is broken down into glucose and fructose, while maltose is broken down into two glucose molecules. This disorder is characterized by stomach cramps, bloating, excess gas production, and diarrhea after ingestion of sucrose and maltose. These digestive problems can lead to failure to thrive and malnutrition. There is no cure for Sucrase-Isomaltase Deficiency, however orally administrated Sacrosidase can help relieve symptoms. Similarly, restricting high sugar diets can also help. Most affected children are better able to tolerate sucrose and maltose as they get older. Frequency of Sucrase-Isomaltase Deficiency is about 1 in 5,000 with European descent. 

Succinyl CoA: 3-Ketoacid CoA Transferase (SCOT) deficiency is a rare inherited metabolic disorder causing reduction of ketone body utilization. In normal functioning patients, ketone bodies such as Acetoacetate (AcAc) and 3‐hydroxybutyrate (3HB) are metabolized inside the liver from free fatty acids. Next, ketone bodies are transported to extrahepatic tissues via the blood stream. Once in extrahepatic tissues, SCOT converts AcAc to acetoacetyl‐CoA and T2 cleaves acetoacetyl‐CoA into acetyl‐CoA. This process is crucial for producing alternative energy sources to glucose in order to maintain blood glucose levels. Patients with SCOT deficiency have this process disturbed and ketoacidosis which is the acidification of the bloodstream due to excess ketone body accumulation, can occur. Current treatments include avoiding actions that could onset ketoacidosis such as fasting and early infusion of glucose. The severity of SCOT deficiency differs from patient to patient. Some exhibit severe genotypes where ketones are always in abundance in the body, while others could have mild genotypes with no preeminent ketosis however both could exhibit ketoacidotic episodes.