Читать книгу Primary Care for COMLEX Level 1 - Dr. Jahan Eftekar - Страница 45

•All blood coagulation deficiencies are autosomal recessive EXCEPT deficiency of factors VIII, IX, and X that are X-linked.

•All coagulation factors are produced by the liver EXCEPT vWF that is produced by the megakaryocytes and endothelial cells.

•All Erythrocytic enzyme deficiencies are autosomal recessive EXCEPT phosphoglycerate kinase and G-6-P dehydrogenase deficiencies that are X-linked.

•All Porphyria are autosomal dominant diseases EXCEPT porphyria Cutanea Tarda that is mainly acquired.

•All porphyrias are more common in women EXCEPT Porphyria Cutanea Tarda.

•All Porphyria are associated with photosensitivity EXCEPT acute intermittent Porphyria.

•All metal metabolism diseases are autosomal recessive EXCEPT Menkes that is X-linked.

•All purine/pyrimidine metabolic (salvage) diseases are autosomal recessive EXCEPT Lesch-Nyhan that is X-linked.

•All glycogen storage diseases cause hepatomegaly EXCEPT Anderson’s disease (Glycogen Storage disease Type IV)

•All glycogen storage diseases are autosomal recessive EXCEPT Hepatic Phosphorylase b Kinase deficiency.

•All lipid storage diseases (sphingolipidoses) are autosomal recessive EXCEPT Fabry’s.

•All lipoprotein and lipid metabolism disorders are autosomal recessive EXCEPT Familial hypercholesterolemia that is autosomal dominant.

•All mucopolysaccharidoses are autosomal recessive EXCEPT Hunter’s Disease (MPS II) that is X-linked.

•All disorders of the urea cycle are autosomal recessive EXCEPT ornithine transcarbamylase deficiency that is X-linked.

•Phosphorylation usually activates various enzymes but it deactivates glycogen synthetase

•GDP-GTP is the only substrate level phosphorylation in the TCA

•Only "L" amino acids are synthesized to proteins

•The only two hormones that use thyrosine kinase for transduction are growth hormone and insulin.

•Arginine is the only essential Amino acid the body can synthesize.

•The only non-reducing sugar (disaccharide) is sucrose.

•All GAGs (Glycosaminoglycans) are extracellular EXCEPT hyaluronic acid

•All GAGs (Glycosaminoglycans) are sulfated EXCEPT hyaluronic acid

•All apoproteins are associated with HDL EXCEPT Apoprotein B.

•All amino acids are chiral EXCEPT glycine.