Term
|
Definition
| Fructokinase deficiency. benign. elevated reducing sugar in blood and urine but no glucose oxidase |
|
|
Term
| Hereditary Fructose Intolerance |
|
Definition
| Aldolase B deficiency. Hepatotoxic |
|
|
Term
|
Definition
Glc 6 Phosphatase Deficiency
Glycogen Storage Disease
severe hepatomegaly, hypoglycemia |
|
|
Term
|
Definition
Lysosomal a-1,4 glucoside
cardiac failure in infants |
|
|
Term
|
Definition
Muscle Glc Phosphorylase deficiency
Glycogen Storage Disease
cramps upon exertion, otherwise normal |
|
|
Term
|
Definition
Liver Glc Phosphorylase Deficiency
Glycogen Storage Disease
mild hypoglycemia |
|
|
Term
|
Definition
Branching Enzyme deficiency
Glycogen Storage Disease
death from liver cirrhosis before age 2 |
|
|
Term
|
Definition
Debranching Enzyme Deficiency
Glycogen Storage Disease
mild |
|
|
Term
|
Definition
Transketolase Deficiency
Korsakoff's Syndrome occurs in alcoholics |
|
|
Term
| Pyruvate Dehydrogenase Deficiency |
|
Definition
Lactic Acidosis, Neurological Defects
(caused by backup of pyruvate and Ala) |
|
|
Term
|
Definition
|
|
Term
|
Definition
Binds to Fe 3+ in complex IV (cytochrome oxidase)
treated with nitrile |
|
|
Term
|
Definition
|
|
Term
|
Definition
uncouplers (reduces gradient)
weak base that picks up protons on cytoplasm and carries them over membrane without using F0 Channel |
|
|
Term
|
Definition
| blocks complex I (NADH-Q Reductase) |
|
|
Term
|
Definition
fatty stool
causes: bile, pancreatic juice, malabsorption deficiency |
|
|
Term
|
Definition
Apo B-48 or B-100 deficiency.
accumulation of lipid in intestinal mucosa cells because lipid cant be exported as chylomicrons.
decreased serum TG and Chol. |
|
|
Term
| Familial Hyperocholesterolemia |
|
Definition
| LDL receptor deficiency; type II hyperlipoemia (cholesteroemia); heterozygous has 2x normal chol (LDL in blood that cant be absorbed + increased de novo synthesis in cells); Xathomas (subcutaneous yellow lipid deposits) is characteristic of disease |
|
|
Term
| Type I hyperchylomicronemia |
|
Definition
| lipoprotein lipase or Apo C-II deficiency; TG, chylomicron lvls elevated. (VLDL after high carb meal) |
|
|
Term
| Type IIa hyperchylomicronemia |
|
Definition
LDL receptor deficiency or secondary causes; LDL elevation
(autosomal dominant)
characteristic sign: xanthomas of achilles heel |
|
|
Term
| Type III dysbetalipoproteinemia |
|
Definition
Apo A-II deficiency;
chylomicron remnant elevated |
|
|
Term
|
Definition
| competitive inhibititor of HMG-CoA Reductase |
|
|
Term
| Myopathic Carnitine acyl(palmatine)transferase deficiency (CAT/CPT) |
|
Definition
muscle weakness/ache provoked by prolonged exercise, esp if fasting
Biopsy: elevated TG in muscle |
|
|
Term
| Medium-chain acyl-CoA dehydrogenase deficiency |
|
Definition
-FFA oxidation stops at 10-12 carbons
–Produces fasting nonketotic (ketones is end product of beta oxidation) hypoglycemia (ATP of beta oxidation needed to gluconeogenesis in fasting state) and muscle weakness
–"Dangerous only in extreme or frequent fasting" - Pelley
-dicarbonxilic acidemia/uria |
|
|
Term
|
Definition
-CPSI deficiency
-blood glutamine increased
-BUN decreased
-no orotic aciduria
-autosomal recessive
-neurological symptoms |
|
|
Term
| Hyperammonemia with secondary oroticaciduria |
|
Definition
-Ornithine transcarbamoylase deficiency
-BUN decreased
-orotic aciduria
-autosomal recessive
-neurological symptoms
-Carbamoyl PO4 excess leaks into cytoplasm and pushes pyrimidine pathway |
|
|
Term
|
Definition
-phenylalanine hydroxylase defect
-mental retardation
-toxic build up of phenylpyruvate, phenylacetate, phenyllactate |
|
|
Term
|
Definition
-biopterin reductase deficiency
-still get neurologic damage on low phe diet |
|
|
Term
|
Definition
-homogentisate oxidase
-dark blue/black urine
-ochronosis
-arthritis |
|
|
Term
|
Definition
-Branched Chain Ketoacid Dehydrogenase deficiency
-urine smells like maple syrup
-mental retardation
-ketosis |
|
|
Term
|
Definition
-methylmalonyl-CoA Mutase deficiency
- Methylmalonic acid build up |
|
|
Term
|
Definition
-CPSI deficiency
-blood glutamine increased
-BUN decreased
-no orotic aciduria
-autosomal recessive
-neurological symptoms |
|
|
Term
| Hyperammonemia with secondary oroticaciduria |
|
Definition
-Ornithine transcarbamoylase deficiency
-BUN decreased
-orotic aciduria
-autosomal recessive
-neurological symptoms
-Carbamoyl PO4 excess leaks into cytoplasm and pushes pyrimidine pathway |
|
|
Term
|
Definition
-cystathionine synthase or homocysteine methyl transferase
-also caused by B12, B6, or folate deficiency
-sulfhydryl group is toxic; mental retardation, deep vein thrombosis, stroke, atherosclerosis |
|
|
Term
|
Definition
-HGPRT deficiency
-self mutilation
- |
|
|
Term
| Adenosine Deaminase Deficiency |
|
Definition
-Adenosine Deaminase Deficiency
-severe combined immunodeficiency
-autosomal recessive |
|
|
Term
|
Definition
|
|
Term
|
Definition
-a-galactosidase A deficiency
-lysosomal storage disease |
|
|
Term
|
Definition
-glucocerebrosidease deficiency
-lysosomal storage disease |
|
|
Term
|
Definition
-spingomyelinase deficiency
-lysosomal storage disease |
|
|
Term
|
Definition
-hexosamindase A deficiency
-lysosomal storage disease |
|
|
Term
|
Definition
-galactocerebrosidase deficiency
-lysosomal storage disease |
|
|
Term
| Metachromatic leukodystrophy |
|
Definition
-arylsulfatase A deficiency
--lysosomal storage disease |
|
|
Term
|
Definition
-tyrpthophan disorder
-pellegra |
|
|
