Maple Syrup Urine Disease (MSUD)
Maple Syrup Urine Disease
Maple syrup urine disease or MSUD is a genetically inherited disease, characterized by a maple syrup odor found in the sweat, urine and earwax of affected individuals. This metabolic disorder was first documented in medical literature in 1954 by John Hans Menkes, a pediatric neurologist who would also discover Menkes Disease. People with this condition lack specific enzymes required to metabolize certain amino acids. It is also commonly known as BCKD deficiency, branched chain alpha-ketoacid dehydrogenase deficiency, branched chain ketonuria I, classical maple syrup urine disease or MSUD. There are several subtypes each with varying levels of severity and symptoms. Because it is inherited prevention is impossible. …show more content…
Thiamine is a B vitamin crucial in the body’s metabolism of glucose and amino acids. Thiamine-responsive MSUD is the least severe form of the disease. People with this variation of the disease can tolerate a diet more rich in protein due to the fact that there is some BCKCD activity. Treatment of this subtype includes a daily dose of Vitamin B1 (thiamine). Medical literature suggest the first person to be diagnosed with thiamine-responsive MSUD was a Canadian infant who was found to have increased levels of branched chain amino acids in her blood. The infant was started on thiamine and showed reduced levels of branched chain amino acids. Upon cessation of treatment the patient’s BCAA levels were shown to be once again elevated. The patient was again started on thiamine at which time BCAA levels fell to an acceptable …show more content…
Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome 19q13.1-q13.2” refers to bands 13.1-13.2 on the long arm of chromosome 19. The numbered bands specify the location of the thousands of genes that are present on each
Maple syrup urine disease or MSUD is a genetically inherited disease, characterized by a maple syrup odor found in the sweat, urine and earwax of affected individuals. This metabolic disorder was first documented in medical literature in 1954 by John Hans Menkes, a pediatric neurologist who would also discover Menkes Disease. People with this condition lack specific enzymes required to metabolize certain amino acids. It is also commonly known as BCKD deficiency, branched chain alpha-ketoacid dehydrogenase deficiency, branched chain ketonuria I, classical maple syrup urine disease or MSUD. There are several subtypes each with varying levels of severity and symptoms. Because it is inherited prevention is impossible. …show more content…
Thiamine is a B vitamin crucial in the body’s metabolism of glucose and amino acids. Thiamine-responsive MSUD is the least severe form of the disease. People with this variation of the disease can tolerate a diet more rich in protein due to the fact that there is some BCKCD activity. Treatment of this subtype includes a daily dose of Vitamin B1 (thiamine). Medical literature suggest the first person to be diagnosed with thiamine-responsive MSUD was a Canadian infant who was found to have increased levels of branched chain amino acids in her blood. The infant was started on thiamine and showed reduced levels of branched chain amino acids. Upon cessation of treatment the patient’s BCAA levels were shown to be once again elevated. The patient was again started on thiamine at which time BCAA levels fell to an acceptable …show more content…
Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome 19q13.1-q13.2” refers to bands 13.1-13.2 on the long arm of chromosome 19. The numbered bands specify the location of the thousands of genes that are present on each