Term
| Neonatal Respiratory Distress Syndrome (RDS) |
|
Definition
| deficiency in the synthesis of lung surfactant |
|
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Term
|
Definition
| Defect in peroxisome synthesis leads to defect in plasmalogen synthesis |
|
|
Term
| Niemann-Pick Diseases: Types A and B |
|
Definition
mutations in sphingomyelinase -> sphingomyelin accumulation
Type A is more severe -> CNS problems |
|
|
Term
| Niemann-Pick Disease: Type C |
|
Definition
| Defect in NPC1 gene -> inability to transport cholesterol and other lipids out of lysosomes |
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Term
|
Definition
| deficiency of cystathione-beta-synthase |
|
|
Term
|
Definition
Methyl-malonyl CoA mutase deficiency OR
Vitamin B12 deficiency |
|
|
Term
| Maple Syrup Urine Disease |
|
Definition
| deficiency of branched chain alpha keto acid dehydrogenase complex |
|
|
Term
|
Definition
| Deficiency of Phenylalanine hydroxylase -> buildup of Phenylalanine |
|
|
Term
|
Definition
| deficiency of Homogentisate oxidase -> buildup of Homogentisate |
|
|
Term
Acute Intermittent Porphyria
(most common Porphyria) |
|
Definition
| deficiency of Porphobilinogen deaminase |
|
|
Term
| Hyperammonemia (Treatments) |
|
Definition
| Lactulose, Benzoate, PhenylButyrate |
|
|
Term
| Primary Carnitine Deficiency |
|
Definition
| defect in Carnitine Transporter |
|
|
Term
|
Definition
| deficiency of peroxisomal alpha-hydroxylase -> buildup of branched chain FAs (phytanic acid) |
|
|
Term
|
Definition
| Thiamine deficiency -> inhibits PDH -> cardivascular and neurological problems |
|
|
Term
|
Definition
| defect in PDH complex E1 subunit -> neurological problems |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
| Cyanide or carbon monoxide |
|
Definition
|
|
Term
|
Definition
| uncouple phosphorylation from electron transfer -> dissipates proton gradient |
|
|
Term
|
Definition
| proton gradient becomes too steep |
|
|
Term
Chylomicronemia
tx: restrict dietary fats, plasma infusions of Apo-CII |
|
Definition
| defect in lipoprotein lipase or Apo-CII |
|
|
Term
| Familial Hypercholesterolemia (Heterozygous and homozygous) |
|
Definition
defect in LDL-receptor
hetero tx: statins, bile-acid sequestratants
homo tx: statins ineffective, appearance of xanthomas |
|
|
Term
|
Definition
| increase in VLDL, LDL; decrease in HDL |
|
|
Term
|
Definition
| elevation in plasma cholesterol levels |
|
|
Term
| Familial Dysbetalipoproteinemia |
|
Definition
| defect in Apo-E -> increased plasma cholesterol and TAGs |
|
|
Term
|
Definition
| defect in ABC1 transporter -> no reverse cholesterol transport by HDL |
|
|
Term
|
Definition
| excessive aldosterone synthesis caused by tumor of adrenal cortex -> enhanced sodium and water retention -> hypertension |
|
|
Term
| P450C11 (11 hydroxylase) deficiency |
|
Definition
| results in excessive production of a weaker mineralocorticoid (deoxycorticosterone) |
|
|
Term
| congenital adrenal hyperplasia |
|
Definition
| deficiency of 21 hydroxylase enzyme -> decreased synthesis of hydrocortisone -> increased compensatory ACTH and androgen production |
|
|
Term
| Rickets (children) and Osteomalacia (adults) |
|
Definition
|
|
Term
|
Definition
| cystathione beta synthase deficiency |
|
|
Term
|
Definition
|
|
Term
|
Definition
| disrupt function of PDH subunit E2 |
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