Term
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Definition
Vitamin B1
1. Coenzyme for Pyruvate Dehydrogenase E1
2. Coenzyme for Alpha-Keto-Glutarate Dehydrogenase (E1)
3. Coenzyme for Transketolase |
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Term
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Definition
Vitamin B2 and used in FADH2
1. Coenzyme for Pyruvate Dehydrogenase (E3)
2. Coenzyme for Alpha-Keto-Glutarate Dehydrogenase (E3)
3. Coenzyme in Complex II (SDH)
As FMN
1. Coenzyme for Complex I |
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Term
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Definition
Vitamin B5 and CoA
1. Coenzyme for Pyruvate Dehydrogenase (E2)
2. Coenzyme for Alpha-Keto-Glutarate Dehydrogenase (E2) |
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Term
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Definition
Vitamin B6
1. Coenzyme for glycogen phosphorylase |
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Term
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Definition
Vitamin B7
1. Coenzyme for Pyruvate Carboxylase |
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Term
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Definition
Vitamin B3 and Used in NADH and NADPH
1. Coenzyme for Pyruvate Dehydrogenase (E3)
2. Coenzyme for Alpha-Keto-Glutarate Dehydrogenase (E3) |
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Term
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Definition
1. Coenzyme for Pyruvate Dehydrogenase (E2)
2. Coenzyme for Alpha-Keto-Glutarate Dehydrogenase (E2) |
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Term
| Thiamine Deficiencies (2) |
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Definition
Wet BeriBeri
Wernicke-Korskakoff syndrome |
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Term
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Definition
| Cardiomyopathy due to thiamine deficiency |
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Term
| Wernicke-Korskakoff Syndrome |
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Definition
Alcohol inhibits uptake of thiamine through intestinal epithelium. Common in alcoholics.
Wernicke = Mental derangements
Korsakoff = Psychosis |
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Term
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Definition
Lactic Acidosis
Neurological Damage |
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Term
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Definition
Rare
X-linked or X-inactivation |
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Term
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Definition
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Term
| PDH and Fumarase deficiencies (2) |
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Definition
Rare
Severe neurological impairment
Death |
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Term
| MERRF Myoclonic Epilepsy with Ragged Red Fibers (2) (4) |
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Definition
1. Mitochondrial Disease of Mito Inheritance
2. Point mutation in tRNA for lysine
1. Abnormal eye movements
2. Loss of hearing
3. Ragged red fibers
4. Lactic Acidosis |
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Term
| MELAS (Mitochondrial Encephalopathy with Lactic Acidosis and Stroke (2) (3) |
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Definition
1. Mitochondrial disease from mito inheritance
2. Point mutation in tRNA for leucine
1. Abnormal development
2. Lactic acidosis
3. Cardiomyopathy |
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Term
| LHON (Leber's Hereditary Optic Neuropathy) (2) (2) |
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Definition
1. Mitochondrial disease from mito inheritance
2. Antibodies leading to defective
Complex I proteins
1. Blindness
2. Tremor |
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Term
| Primary Biliary Cirrhosis |
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Definition
1. Autoimmune disease of mitochondria
2. Antibodies to PDH complex |
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Term
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Definition
1. Autoimmune mitochondrial disease
2. Antibodies to Adenine Nucleotide Transporter |
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Term
| GM Type IA: Von Gierke's Disease (1) (7) |
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Definition
1. Glucose-6-Phosphatase Deficiency
1. Normal Glycogen
2. Increased glycogen stores
3. Fasting hypoglycemia
4. Liver: Fatty and megaly
5. Renal: Disease and megaly
6. High lactic acid, lipids, uric acid in blood |
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Term
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Definition
1. Glucose-6-Phosphate Translocase Deficiency
1. Neutropenia
2. Recurrent infections
3. Normal Glycogen
4. Increased glycogen stores
5. Fasting hypoglycemia
6. Liver: Fatty and megaly
7. Renal: Disease and megaly
8. High lactic acid, lipids, uric acid in blood |
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Term
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Definition
1. Lysosomal Alpha (alpha-->4) Glucosidase Deficiency
1. Excessive increase in normal structured glycogen in abnormal lysosomal vacuoles
1. All organs affected
2. Normal blood sugar
3. Massive cardiomegaly
3. |
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Term
| Type III: Cori Disease (2) (3) |
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Definition
1. 4:4 Transferase Deficiency
2. 1:6 Glucosidase deficiency
1. Increased amount of glycogen with very short branches.
2. Fasting hypoglycemia
3. Muscle and Liver |
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Term
| Type IV: Andersen's Disease (1) (3) |
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Definition
1. Branching enzyme
1. Normal amount of glycogen with very long outer branches
2. Affect liver and spleen
3. Cirrhosis and liver Failure before age 2 |
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Term
| Type V: McArdle's Disease (1)(7) |
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Definition
1. Skeletal muscle glycogen phosphorylase deficiency
1. Moderate increase in normal structured glycogen
2. Muscle affected only
3. Huge ADP increase after exercise
4. Weakness and cramping of muscle after exercise
5. No increased lactate
6. Myoglobinemia and Myogloburia
7. Benign but chronic |
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Term
| Type VI: Her's Disease (1)(3) |
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Definition
1. Liver Glycogen Phosphorylase Deficiency
1. Increased amount of glycogen
2. Liver affected
3. Mild fasting hypoglycemia |
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Term
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Definition
Phosphofructokinase deficiency
1. Increased amount of glycogen
2. Muscle
3. Benign but cramps |
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Term
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Definition
Phosphorylase Kinase defiency
1. Liver
2. Increased glycogen
3. Mild hypoglycemia and liver enlargment |
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Term
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Definition
1. 10% US Black Males are carriers
2. Malarial belt adaptation that causes infected RBC's to lyse quicker in presence of ROS's.
3. Increased oxidative stress through sulfa drugs, antimalarials, and fava beans increase hemolysis. |
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Term
| Essential Fructosuria (2) |
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Definition
1. Lack of fructokinase
2. Autosomal recessive
1. Benign
2. Fructose (reduced sugar) in urine |
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Term
| hereditary Fructose Intolerance (2) (4) |
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Definition
1. Absence of Aldolase B
2. Autosomal recessive
1. Jaundice
2. Hypoglycemia
3. Vomiting, Liver and kidney problems
4. Lacticacidemia |
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Term
| Non-classic galactosemia (2) (3) |
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Definition
1. Galactokinase deficiency
2. Autosomal recessive
1. Galacitol accumulation causing cataracts
2. Galactose in urine and blood
3. Fairly benign |
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Term
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Definition
1. GALT deficiency
2. Autosomal recessive
1. G-1-P and Galacitol accumulate in nerve, lens, liver, and kidney
2. Cataracts
3. Liver damage
4. Mental retardation |
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