Name the Disease Problem and Symptoms. Flashcards Preview

Bryochemistry Last Exam > Name the Disease Problem and Symptoms. > Flashcards

Flashcards in Name the Disease Problem and Symptoms. Deck (12):
1

Holocarboxylase Synthase Deficiency

Can't reuse the Biotin. Causes encephalopathic crisis and hair loss.

2

Folic Acid Deficiency

Neural Tube Defects/Spinal Bifida/Impairment of DNA replication. Caused by Alcoholism, malabsorption diseases. Inhibited by Methotrexate.

3

B12 Deficiency

Megaloblastic Anemia, Neurological Deterioration, Inhibited BCAA degradation. Caused by vegan, pern. anemia, and intestinal malabs.

4

Hyperhomocysteinemia

Too much homocysteine from folate deficiency, B12, mutation of cystathione synthase. Coronary heart disease, stroke, valve disease.

5

Congenital Adrenal Hyperplasia

CYP21A2 Deficiency. Vomiting, Dehydration, Infertility. Associated with high 17-hydroxyprogesterone.

6

Aldosterone Synthase Deficiency

CYP11B2 deficiency. Electrolyte imbalance, vomiting, dehydration.

7

Cushing Syndrome

Too much cortisol from either over administration of glucocorticoids or ACTH secreting tumors. Moon face, truncal obesity, buffalo hump.

8

Hypothyroidism

Iodine Deficiency or Autoimmune Disorder (Hashimoto). Problems with metabolism control and temperature control fatigue.

9

Different Types of Jaundice

Prehepatic, Hepatic, and Post Hepatic

10

Neonatal hyperbilirubinaemia

Liver cannot conjugate to glucuronate. Can cause brain damage (acute kernicterus), hearing loss, movement disorder

11

Gilbert Syndrome

Deficiency of Glucuronyl Transferase (asymptomatic)

12

Porphyria

Defects in heme biosynthetic pathway. Intermediates accumulate.