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Enteropeptidase (also called enterokinase) is an enzyme produced by cells of the duodenum and is involved in digestion in humans and other animals. Enteropeptidase converts trypsinogen (a zymogen ) into its active form trypsin , resulting in the subsequent activation of pancreatic digestive enzymes .
Exocrine pancreatic insufficiency (EPI) is the inability to properly digest food due to a lack or reduction of digestive enzymes made by the pancreas.EPI can occur in humans and is prevalent in many conditions [1] such as cystic fibrosis, [2] Shwachman–Diamond syndrome, [3] different types of pancreatitis, [4] multiple types of diabetes mellitus (Type 1 and Type 2 diabetes), [5] advanced ...
Dietary fructose intolerance occurs when there is a deficiency in the amount of fructose carrier. Lactose intolerance is the most common problem of carbohydrate digestion and occurs when the human body doesn't produce a sufficient amount of lactase enzyme to break down the sugar lactose found in dairy. As a result of this deficiency, undigested ...
Signs and symptoms [ edit ] Because of the enormous number of these diseases and the numerous systems negatively impacted, nearly every "presenting complaint" to a healthcare provider may have a congenital metabolic disease as a possible cause, especially in childhood and adolescence.
Adult assessments: Adult Self-Report (ASR) – To be completed by the adult. This assesses the adult's adaptive functioning, strengths, and problems. Adult Behavior Checklist (ABCL) – To be completed by a known individual of the adult, meant to reflect answers provided on the ASR. Brief Problem Monitor for Ages 18-59 (BPM/18-59)
Symptoms can be any combination of myopathic, hepatopathic, or encephalomyopathic. [1] These syndromes affect tissue in the muscle, liver, or both the muscle and brain, respectively. The condition is typically fatal in infancy and early childhood, though some have survived to their teenage years with the myopathic variant and some have survived ...
When both parents are unaffected genetic carriers, then their children may develop APBD, may be unaffected carriers, or may be healthy children without the mutation.. APBD is an autosomal recessive disorder that is caused when a person inherits genes from both parents containing one or more loss-of-function mutations in the gene GBE1 which encodes for glycogen branching enzyme, also called 1,4 ...
Acrodermatitis enteropathica is an autosomal recessive metabolic disorder affecting the uptake of zinc through the inner lining of the bowel, the mucous membrane.It is characterized by inflammation of the skin around bodily openings (periorificial) and the tips of fingers and toes (acral), hair loss (), and diarrhea.