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DISORDERS
Introduction to The Medical Biochemistry Page. The Medical Biochemistry Page has been a continuously updated and expanding, free educational resource on the internet since 1996. The goal of the site is to provide extensive, detailed, and accurate information on a range of topics centered on the foundation of Medical Biochemistry. MOLECULAR BIOLOGY IN MEDICINEADDISON DISEASE
GRAVES DISEASE
Introduction to Graves Disease. Graves disease is a disorder that was originally described by the Irish physician, Robert James Graves in 1835. His original description CYSTINURIA - THE MEDICAL BIOCHEMISTRY PAGE Introduction to Cystinuria. As the name implies, cystinuria is a disorder associated with excess cystine in the urine. Cystine is the oxidized disulfide homodimer of two cysteines. THALASSEMIAS: Α-THALASSEMIAS Thalassemias: α-Thalassemias. The thalassemias are the result of quantitative abnormalities in hemoglobin synthesis. With the α-thalassemias the level of α-globin production can range from none to very nearly normal levels. This is due in part to the fact that there are two identical α-globin genes on chromosome 16 in humans. MORQUIO SYNDROMES TYPE A AND B (MPS IV) Introduction to the Morquio Syndromes. The Morquio syndromes (mucopolysaccharidosis type IV; MPS IV) represent a group of related autosomal recessive disorders that belong to a family of disorders identified as lysosomal storage diseases, and historically as the mucopolysaccharidoses.The Morquio syndromes are characterized by the lysosomal accumulation of glycoconjugates (glycolipids DISORDERS OF NUCLEOTIDE METABOLISM ARCHIVES Introduction to Lesch-Nyhan Syndrome Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder resulting from the near complete lack of activity of the purine nucleotide salvage enzyme, hypoxanthine-guanine phosphoribosyltransferase, HGPRT (encoded by the HPRT1 CORI DISEASE: TYPE 3 GLYCOGEN STORAGE DISEASE Glycogen storage disease type 3 (GSD3) is also known as Cori disease, Forbes disease, and limit dextrinosis. Cori disease is inherited as an autosomal recessive disorder. The symptoms associated with Cori disease were first described in 1952 by Illingworth and Cori and was studied clinically by Forbes hence the associated names for thisdisorder.
HYPERURICEMIA AND GOUT HOMEPAGE - THE MEDICAL BIOCHEMISTRY PAGEFOUNDATIONAL BIOCHEMISTRYBIOCHEMISTRY TOPICSSPECIALIZED TOPICSDISEASES ANDDISORDERS
Introduction to The Medical Biochemistry Page. The Medical Biochemistry Page has been a continuously updated and expanding, free educational resource on the internet since 1996. The goal of the site is to provide extensive, detailed, and accurate information on a range of topics centered on the foundation of Medical Biochemistry. MOLECULAR BIOLOGY IN MEDICINEADDISON DISEASE
GRAVES DISEASE
Introduction to Graves Disease. Graves disease is a disorder that was originally described by the Irish physician, Robert James Graves in 1835. His original description CYSTINURIA - THE MEDICAL BIOCHEMISTRY PAGE Introduction to Cystinuria. As the name implies, cystinuria is a disorder associated with excess cystine in the urine. Cystine is the oxidized disulfide homodimer of two cysteines. THALASSEMIAS: Α-THALASSEMIAS Thalassemias: α-Thalassemias. The thalassemias are the result of quantitative abnormalities in hemoglobin synthesis. With the α-thalassemias the level of α-globin production can range from none to very nearly normal levels. This is due in part to the fact that there are two identical α-globin genes on chromosome 16 in humans. MORQUIO SYNDROMES TYPE A AND B (MPS IV) Introduction to the Morquio Syndromes. The Morquio syndromes (mucopolysaccharidosis type IV; MPS IV) represent a group of related autosomal recessive disorders that belong to a family of disorders identified as lysosomal storage diseases, and historically as the mucopolysaccharidoses.The Morquio syndromes are characterized by the lysosomal accumulation of glycoconjugates (glycolipids DISORDERS OF NUCLEOTIDE METABOLISM ARCHIVES Introduction to Lesch-Nyhan Syndrome Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder resulting from the near complete lack of activity of the purine nucleotide salvage enzyme, hypoxanthine-guanine phosphoribosyltransferase, HGPRT (encoded by the HPRT1 CORI DISEASE: TYPE 3 GLYCOGEN STORAGE DISEASE Glycogen storage disease type 3 (GSD3) is also known as Cori disease, Forbes disease, and limit dextrinosis. Cori disease is inherited as an autosomal recessive disorder. The symptoms associated with Cori disease were first described in 1952 by Illingworth and Cori and was studied clinically by Forbes hence the associated names for thisdisorder.
HYPERURICEMIA AND GOUT COMMON BLOOD ANALYSIS DATA Values presented represent expected normal data At the end is an alphabetical listing of numerous clinical values Blood Gases Arterial Venous pH 7.35–7.45 7.32–7.42 pCO2: millimeters of mercury, mmHg 35–45 mmHg 38–52 mmHg pO2 70–100 mmHg 28–48 mmHg HCO3– 19–25 mmol/L 19–25 mmol/L O2 Sat % 90–95 40–70 CBC: Complete blood count, Adults Male OBESITY: METABOLIC AND CLINICAL CONSEQUENCES Obesity is defined as a physical condition in which an individual has a body mass index (BMI) ≥30kg/m 2. The BMI is a measure of the relationship between an individuals weight and height. The BMI is calculated by dividing a persons weight in kilograms by the square of their height in meters. The medical utility for determining a personsBMI
MORQUIO SYNDROMES TYPE A AND B (MPS IV) Introduction to the Morquio Syndromes. The Morquio syndromes (mucopolysaccharidosis type IV; MPS IV) represent a group of related autosomal recessive disorders that belong to a family of disorders identified as lysosomal storage diseases, and historically as the mucopolysaccharidoses.The Morquio syndromes are characterized by the lysosomal accumulation of glycoconjugates (glycolipids FRUCTOSE METABOLISM DISORDERS Hereditary fructose intolerance (HFI) is a potentially lethal autosomal recessive disorder resulting from a lack of aldolase B (gene symbol: ALDOB) which is normally expressed in the liver, small intestine and kidney cortex. The incidence of HFI is on the order of 1 in 20,000 live births. The disorder is characterized by severehypoglycemia and
BIOCHEMICAL PROPERTIES OF NUCLEIC ACIDS Introduction As a class, the nucleotides may be considered one of the most important nitrogenous metabolites of the cell. Nucleotides are found primarily as the monomeric units comprising the major nucleic acids of the cell, RNA and DNA. However, they also are required for numerous other important functions within the cell. These functionsinclude: 1. Serving
FRUCTOSE METABOLISM
Pathway of fructose metabolism. Entry of fructose carbon atoms into the glycolytic pathway in hepatocytes, kidney, and small intestine is outlined. Fructose, either free or derived from the digestion of sucrose, is phosphorylated to fructose-1-phosphate (F1P) by fructokinases (KHK-A or KHK-C). Aldolase B hydrolyzes F1P toglyceraldehyde and
METABOLIC ALTERATIONS ASSOCIATED WITH CANCER Metabolic pathways that utilize glutamine in proliferating and cancer cells. Glutamine is the most abundant amino acid in the blood and it is transported into cells through the actions or various transporters such as the one encoded by the SLC1A5 gene (also known as ASCT2: Alanine Serine Cysteine Transporter 2).MARFAN SYNDROME
Molecular Biology of Marfan Syndrome. The fibrillin gene (symbol FBN1) is located on chromosome 15q21.1 spanning 200kb. The FBN1 gene is complex being fragmented into 66 exons. The gene encodes a preprofibrillin protein of 2,871 amino acids with a processed molecular weight of approximately 350,000 Da. There are five distinctstructural regions
BIOCHEMICAL PROPERTIES OF LIPIDS Major Roles of Biological Lipids Biological molecules that are insoluble in aqueous solution and soluble in organic solvents are classified as lipids. Lipids in biological systems include fats, sterols, fat soluble vitamins, phospholipids, and triglycerides. The lipids of physiological importance for humans exert the following major functions: 1. They serve as structural components of GLYCOSAMINOGLYCANS AND PROTEOGLYCANS The most abundant heteropolysaccharides in the body are the glycosaminoglycans (GAGs). The glycosaminoglycans are historically referred to as the mucopolysaccharides given that they were originally characterized in mucus membranes and mucosal exudates. The GAG molecules are long unbranched polysaccharides containing a repeatingdisaccharide unit.
HOMEPAGE - THE MEDICAL BIOCHEMISTRY PAGEFOUNDATIONAL BIOCHEMISTRYBIOCHEMISTRY TOPICSSPECIALIZED TOPICSDISEASES ANDDISORDERS
Introduction to The Medical Biochemistry Page. The Medical Biochemistry Page has been a continuously updated and expanding, free educational resource on the internet since 1996. The goal of the site is to provide extensive, detailed, and accurate information on a range of topics centered on the foundation of Medical Biochemistry. CYSTINURIA - THE MEDICAL BIOCHEMISTRY PAGE Introduction to Cystinuria. As the name implies, cystinuria is a disorder associated with excess cystine in the urine. Cystine is the oxidized disulfide homodimer of two cysteines.ADDISON DISEASE
GRAVES DISEASE
Introduction to Graves Disease. Graves disease is a disorder that was originally described by the Irish physician, Robert James Graves in 1835. His original descriptionHEMOPHILIA A
HUNTINGTON DISEASE, HD Huntington disease is inherited as an autosomal dominant disorder characterized by slowly progressive neurodegeneration associated with choreic movements (abnormal involuntary movements) and dementia. The disease is named after George Huntington who provided the classicalaccount of
DISORDERS OF NUCLEOTIDE METABOLISM ARCHIVES Introduction to Lesch-Nyhan Syndrome Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder resulting from the near complete lack of activity of the purine nucleotide salvage enzyme, hypoxanthine-guanine phosphoribosyltransferase, HGPRT (encoded by the HPRT1 THALASSEMIAS: Α-THALASSEMIAS Thalassemias: α-Thalassemias. The thalassemias are the result of quantitative abnormalities in hemoglobin synthesis. With the α-thalassemias the level of α-globin production can range from none to very nearly normal levels. This is due in part to the fact that there are two identical α-globin genes on chromosome 16 in humans.SICKLE CELL ANEMIA
Sickle cell anemia is an autosomal recessive disorder affecting the function of hemoglobin. In order for full disease symptoms to manifest in an individual they must carry two copies (homozygous genotype = SS) of the HbS gene. However, individuals who are heterozygous (genotype = AS) have what is referred to as sickle cell trait, aHEMOPHILIA B
Hemophilia B, also known as factor IX deficiency or Christmas disease, is an X-linked recessive bleeding disorder caused by defects in the vitamin K-dependent enzyme, factor IX, of the clotting cascade. Factor IX is also known as the Christmas factor, hence the association ofhemophilia B
HOMEPAGE - THE MEDICAL BIOCHEMISTRY PAGEFOUNDATIONAL BIOCHEMISTRYBIOCHEMISTRY TOPICSSPECIALIZED TOPICSDISEASES ANDDISORDERS
Introduction to The Medical Biochemistry Page. The Medical Biochemistry Page has been a continuously updated and expanding, free educational resource on the internet since 1996. The goal of the site is to provide extensive, detailed, and accurate information on a range of topics centered on the foundation of Medical Biochemistry. CYSTINURIA - THE MEDICAL BIOCHEMISTRY PAGE Introduction to Cystinuria. As the name implies, cystinuria is a disorder associated with excess cystine in the urine. Cystine is the oxidized disulfide homodimer of two cysteines.ADDISON DISEASE
GRAVES DISEASE
Introduction to Graves Disease. Graves disease is a disorder that was originally described by the Irish physician, Robert James Graves in 1835. His original descriptionHEMOPHILIA A
HUNTINGTON DISEASE, HD Huntington disease is inherited as an autosomal dominant disorder characterized by slowly progressive neurodegeneration associated with choreic movements (abnormal involuntary movements) and dementia. The disease is named after George Huntington who provided the classicalaccount of
DISORDERS OF NUCLEOTIDE METABOLISM ARCHIVES Introduction to Lesch-Nyhan Syndrome Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder resulting from the near complete lack of activity of the purine nucleotide salvage enzyme, hypoxanthine-guanine phosphoribosyltransferase, HGPRT (encoded by the HPRT1 THALASSEMIAS: Α-THALASSEMIAS Thalassemias: α-Thalassemias. The thalassemias are the result of quantitative abnormalities in hemoglobin synthesis. With the α-thalassemias the level of α-globin production can range from none to very nearly normal levels. This is due in part to the fact that there are two identical α-globin genes on chromosome 16 in humans.SICKLE CELL ANEMIA
Sickle cell anemia is an autosomal recessive disorder affecting the function of hemoglobin. In order for full disease symptoms to manifest in an individual they must carry two copies (homozygous genotype = SS) of the HbS gene. However, individuals who are heterozygous (genotype = AS) have what is referred to as sickle cell trait, aHEMOPHILIA B
Hemophilia B, also known as factor IX deficiency or Christmas disease, is an X-linked recessive bleeding disorder caused by defects in the vitamin K-dependent enzyme, factor IX, of the clotting cascade. Factor IX is also known as the Christmas factor, hence the association ofhemophilia B
GRAVES DISEASE
Introduction to Graves Disease. Graves disease is a disorder that was originally described by the Irish physician, Robert James Graves in 1835. His original description COMMON BLOOD ANALYSIS DATA Values presented represent expected normal data At the end is an alphabetical listing of numerous clinical values Blood Gases Arterial Venous pH 7.35–7.45 7.32–7.42 pCO2: millimeters of mercury, mmHg 35–45 mmHg 38–52 mmHg pO2 70–100 mmHg 28–48 mmHg HCO3– 19–25 mmol/L 19–25 mmol/L O2 Sat % 90–95 40–70 CBC: Complete blood count, Adults Male EHLERS-DANLOS SYNDROMES Classical EDS is the result of mutations in the collagen genes, COL5A1 and COL5A2. Classical EDS is inherited as an autosomal dominant disease. The characteristic clinical features of classical EDS are soft, velvety, and hyperextensible skin and easy bruising. The joints are quite hypermobile. MORQUIO SYNDROMES TYPE A AND B (MPS IV) Introduction to the Morquio Syndromes. The Morquio syndromes (mucopolysaccharidosis type IV; MPS IV) represent a group of related autosomal recessive disorders that belong to a family of disorders identified as lysosomal storage diseases, and historically as the mucopolysaccharidoses.The Morquio syndromes are characterized by the lysosomal accumulation of glycoconjugates (glycolipids GLYCOSAMINOGLYCANS AND PROTEOGLYCANS The most abundant heteropolysaccharides in the body are the glycosaminoglycans (GAGs). The glycosaminoglycans are historically referred to as the mucopolysaccharides given that they were originally characterized in mucus membranes and mucosal exudates. The GAG molecules are long unbranched polysaccharides containing a repeatingdisaccharide unit.
CORI DISEASE: TYPE 3 GLYCOGEN STORAGE DISEASE Glycogen storage disease type 3 (GSD3) is also known as Cori disease, Forbes disease, and limit dextrinosis. Cori disease is inherited as an autosomal recessive disorder. The symptoms associated with Cori disease were first described in 1952 by Illingworth and Cori and was studied clinically by Forbes hence the associated names for thisdisorder.
MEDIUM CHAIN ACYL-COA DEHYDROGENASE (MCAD) DEFICIENCY Medium-chain acyl-CoA dehydrogenase (MCAD), which is also called acyl-CoA dehydrogenase, medium-chain (ACADM), is so called because of the size range of its fatty acyl-CoA substrates. MCAD acts on saturated fatty acyl-CoA molecules that range in size from 12 down to 4 carbons in length. Deficiency in MCAD is the most common defectobserved in
HYPERURICEMIA AND GOUT Hyperuricemia is defined as a serum urate concentration exceeding 6.8mg/dL in both men and women. However, it should be noted that serum urate concentrations vary markedly among different populations and the values are influenced by such things as age, sex, ethnicity, bodyweight, and the
FRUCTOSE METABOLISM
Pathway of fructose metabolism. Entry of fructose carbon atoms into the glycolytic pathway in hepatocytes, kidney, and small intestine is outlined. Fructose, either free or derived from the digestion of sucrose, is phosphorylated to fructose-1-phosphate (F1P) by fructokinases (KHK-A or KHK-C). Aldolase B hydrolyzes F1P toglyceraldehyde and
CARNITINE PALMITOYLTRANSFERASE 1 (CPT-1) DEFICIENCY The CPT1C gene is located on chromosome 19q13.33 and consists of 24 exons that generate eleven alternatively spliced mRNAs that collectively encode five distinct protein isoforms. CPT-1 deficiency results from mutations in the CPT1A gene and as such is also referred to as CPT1A deficiency. In addition to the CPT-1 isoforms, humansexpress three
HOMEPAGE - THE MEDICAL BIOCHEMISTRY PAGEFOUNDATIONAL BIOCHEMISTRYBIOCHEMISTRY TOPICSSPECIALIZED TOPICSDISEASES ANDDISORDERS
Introduction to The Medical Biochemistry Page. The Medical Biochemistry Page has been a continuously updated and expanding, free educational resource on the internet since 1996. The goal of the site is to provide extensive, detailed, and accurate information on a range of topics centered on the foundation of Medical Biochemistry. CYSTINURIA - THE MEDICAL BIOCHEMISTRY PAGE Introduction to Cystinuria. As the name implies, cystinuria is a disorder associated with excess cystine in the urine. Cystine is the oxidized disulfide homodimer of two cysteines.ADDISON DISEASE
GRAVES DISEASE
Introduction to Graves Disease. Graves disease is a disorder that was originally described by the Irish physician, Robert James Graves in 1835. His original descriptionHEMOPHILIA A
DISORDERS OF NUCLEOTIDE METABOLISM ARCHIVES Introduction to Lesch-Nyhan Syndrome Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder resulting from the near complete lack of activity of the purine nucleotide salvage enzyme, hypoxanthine-guanine phosphoribosyltransferase, HGPRT (encoded by the HPRT1 HUNTINGTON DISEASE, HD Huntington disease is inherited as an autosomal dominant disorder characterized by slowly progressive neurodegeneration associated with choreic movements (abnormal involuntary movements) and dementia. The disease is named after George Huntington who provided the classicalaccount of
THALASSEMIAS: Α-THALASSEMIAS Thalassemias: α-Thalassemias. The thalassemias are the result of quantitative abnormalities in hemoglobin synthesis. With the α-thalassemias the level of α-globin production can range from none to very nearly normal levels. This is due in part to the fact that there are two identical α-globin genes on chromosome 16 in humans.SICKLE CELL ANEMIA
Sickle cell anemia is an autosomal recessive disorder affecting the function of hemoglobin. In order for full disease symptoms to manifest in an individual they must carry two copies (homozygous genotype = SS) of the HbS gene. However, individuals who are heterozygous (genotype = AS) have what is referred to as sickle cell trait, aHEMOPHILIA B
Hemophilia B, also known as factor IX deficiency or Christmas disease, is an X-linked recessive bleeding disorder caused by defects in the vitamin K-dependent enzyme, factor IX, of the clotting cascade. Factor IX is also known as the Christmas factor, hence the association ofhemophilia B
HOMEPAGE - THE MEDICAL BIOCHEMISTRY PAGEFOUNDATIONAL BIOCHEMISTRYBIOCHEMISTRY TOPICSSPECIALIZED TOPICSDISEASES ANDDISORDERS
Introduction to The Medical Biochemistry Page. The Medical Biochemistry Page has been a continuously updated and expanding, free educational resource on the internet since 1996. The goal of the site is to provide extensive, detailed, and accurate information on a range of topics centered on the foundation of Medical Biochemistry. CYSTINURIA - THE MEDICAL BIOCHEMISTRY PAGE Introduction to Cystinuria. As the name implies, cystinuria is a disorder associated with excess cystine in the urine. Cystine is the oxidized disulfide homodimer of two cysteines.ADDISON DISEASE
GRAVES DISEASE
Introduction to Graves Disease. Graves disease is a disorder that was originally described by the Irish physician, Robert James Graves in 1835. His original descriptionHEMOPHILIA A
DISORDERS OF NUCLEOTIDE METABOLISM ARCHIVES Introduction to Lesch-Nyhan Syndrome Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder resulting from the near complete lack of activity of the purine nucleotide salvage enzyme, hypoxanthine-guanine phosphoribosyltransferase, HGPRT (encoded by the HPRT1 HUNTINGTON DISEASE, HD Huntington disease is inherited as an autosomal dominant disorder characterized by slowly progressive neurodegeneration associated with choreic movements (abnormal involuntary movements) and dementia. The disease is named after George Huntington who provided the classicalaccount of
THALASSEMIAS: Α-THALASSEMIAS Thalassemias: α-Thalassemias. The thalassemias are the result of quantitative abnormalities in hemoglobin synthesis. With the α-thalassemias the level of α-globin production can range from none to very nearly normal levels. This is due in part to the fact that there are two identical α-globin genes on chromosome 16 in humans.SICKLE CELL ANEMIA
Sickle cell anemia is an autosomal recessive disorder affecting the function of hemoglobin. In order for full disease symptoms to manifest in an individual they must carry two copies (homozygous genotype = SS) of the HbS gene. However, individuals who are heterozygous (genotype = AS) have what is referred to as sickle cell trait, aHEMOPHILIA B
Hemophilia B, also known as factor IX deficiency or Christmas disease, is an X-linked recessive bleeding disorder caused by defects in the vitamin K-dependent enzyme, factor IX, of the clotting cascade. Factor IX is also known as the Christmas factor, hence the association ofhemophilia B
GRAVES DISEASE
Introduction to Graves Disease. Graves disease is a disorder that was originally described by the Irish physician, Robert James Graves in 1835. His original description COMMON BLOOD ANALYSIS DATA Values presented represent expected normal data At the end is an alphabetical listing of numerous clinical values Blood Gases Arterial Venous pH 7.35–7.45 7.32–7.42 pCO2: millimeters of mercury, mmHg 35–45 mmHg 38–52 mmHg pO2 70–100 mmHg 28–48 mmHg HCO3– 19–25 mmol/L 19–25 mmol/L O2 Sat % 90–95 40–70 CBC: Complete blood count, Adults Male EHLERS-DANLOS SYNDROMES Classical EDS is the result of mutations in the collagen genes, COL5A1 and COL5A2. Classical EDS is inherited as an autosomal dominant disease. The characteristic clinical features of classical EDS are soft, velvety, and hyperextensible skin and easy bruising. The joints are quite hypermobile. MORQUIO SYNDROMES TYPE A AND B (MPS IV) Introduction to the Morquio Syndromes. The Morquio syndromes (mucopolysaccharidosis type IV; MPS IV) represent a group of related autosomal recessive disorders that belong to a family of disorders identified as lysosomal storage diseases, and historically as the mucopolysaccharidoses.The Morquio syndromes are characterized by the lysosomal accumulation of glycoconjugates (glycolipids GLYCOSAMINOGLYCANS AND PROTEOGLYCANS The most abundant heteropolysaccharides in the body are the glycosaminoglycans (GAGs). The glycosaminoglycans are historically referred to as the mucopolysaccharides given that they were originally characterized in mucus membranes and mucosal exudates. The GAG molecules are long unbranched polysaccharides containing a repeatingdisaccharide unit.
CORI DISEASE: TYPE 3 GLYCOGEN STORAGE DISEASE Glycogen storage disease type 3 (GSD3) is also known as Cori disease, Forbes disease, and limit dextrinosis. Cori disease is inherited as an autosomal recessive disorder. The symptoms associated with Cori disease were first described in 1952 by Illingworth and Cori and was studied clinically by Forbes hence the associated names for thisdisorder.
HYPERURICEMIA AND GOUT Hyperuricemia is defined as a serum urate concentration exceeding 6.8mg/dL in both men and women. However, it should be noted that serum urate concentrations vary markedly among different populations and the values are influenced by such things as age, sex, ethnicity, bodyweight, and the
FRUCTOSE METABOLISM
Pathway of fructose metabolism. Entry of fructose carbon atoms into the glycolytic pathway in hepatocytes, kidney, and small intestine is outlined. Fructose, either free or derived from the digestion of sucrose, is phosphorylated to fructose-1-phosphate (F1P) by fructokinases (KHK-A or KHK-C). Aldolase B hydrolyzes F1P toglyceraldehyde and
MEDIUM CHAIN ACYL-COA DEHYDROGENASE (MCAD) DEFICIENCY Medium-chain acyl-CoA dehydrogenase (MCAD), which is also called acyl-CoA dehydrogenase, medium-chain (ACADM), is so called because of the size range of its fatty acyl-CoA substrates. MCAD acts on saturated fatty acyl-CoA molecules that range in size from 12 down to 4 carbons in length. Deficiency in MCAD is the most common defectobserved in
CARNITINE PALMITOYLTRANSFERASE 1 (CPT-1) DEFICIENCY The CPT1C gene is located on chromosome 19q13.33 and consists of 24 exons that generate eleven alternatively spliced mRNAs that collectively encode five distinct protein isoforms. CPT-1 deficiency results from mutations in the CPT1A gene and as such is also referred to as CPT1A deficiency. In addition to the CPT-1 isoforms, humansexpress three
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