Flashcards in Name the Disease Problem and Symptoms. Deck (12):
Holocarboxylase Synthase Deficiency
Can't reuse the Biotin. Causes encephalopathic crisis and hair loss.
Folic Acid Deficiency
Neural Tube Defects/Spinal Bifida/Impairment of DNA replication. Caused by Alcoholism, malabsorption diseases. Inhibited by Methotrexate.
Megaloblastic Anemia, Neurological Deterioration, Inhibited BCAA degradation. Caused by vegan, pern. anemia, and intestinal malabs.
Too much homocysteine from folate deficiency, B12, mutation of cystathione synthase. Coronary heart disease, stroke, valve disease.
Congenital Adrenal Hyperplasia
CYP21A2 Deficiency. Vomiting, Dehydration, Infertility. Associated with high 17-hydroxyprogesterone.
Aldosterone Synthase Deficiency
CYP11B2 deficiency. Electrolyte imbalance, vomiting, dehydration.
Too much cortisol from either over administration of glucocorticoids or ACTH secreting tumors. Moon face, truncal obesity, buffalo hump.
Iodine Deficiency or Autoimmune Disorder (Hashimoto). Problems with metabolism control and temperature control fatigue.
Different Types of Jaundice
Prehepatic, Hepatic, and Post Hepatic
Liver cannot conjugate to glucuronate. Can cause brain damage (acute kernicterus), hearing loss, movement disorder
Deficiency of Glucuronyl Transferase (asymptomatic)