Biochem - Final - Diseases and Conditions - Part 4

davidwurbel7's version from 2015-04-19 09:56


Question Answer
Deficiency of Thiamine Beriberi
Mainly involves cardiovascular systemWet beriberi
High output cardiac failure, four chamber dilated heartWet beriberi
Dependent edema, breathlessness, palpitation, orthopneaWet beriberi
Acute circulatory failure, deathWet beriberi
Central nervous system mainly involvedDry beriberi
Polyneuritis, peripheral neuropathyDry beriberi
Progressive muscle wasting, foot drop, wrist drop, loss of reflexes, parasthesiaDry beriberi
Difficulty in walking, bedriddenDry beriberi
Born to thiamine deficient motherInfantile beriberi
Sleepiness, restlessnessInfantile beriberi
Cyanosis, breathlessness, cardiac failureInfantile beriberi
Sudden death cardiac failureInfantile beriberi
Key signs: vision changes, ataxia and impaired memory. Seen as secondary to alcoholismWernicke-Korsakoff Syndrome
Nystagmus, ophthalmoplegia, cerebellar ataxia, confusion, loss of memory (anterograde and retrograde amnesia) and confabulatory psychosisWernicke-Korsakoff Syndrome
Deficiency is manifested principally by lesions of the mucocutaneous surfaces of the mouth and skin. Cheilosis, Angular cheilitis and stomatitis, glossitis, Corneal neovascularization, Seborrhic dermatitis, Anemia, and personality changesRiboflavin Deficiency
Late signs and symptoms: Diarrhea (involvement of enterocytes), dermatitis (skin) and dementia (neuronal degeneration)Pallagra - Niacin Deficiency
Early signs and symptoms: loss appetite, generalized weakness and irritability, abdominal pain, and vomitingPallagra - Niacin Deficiency
Deficiency manifestations – very rare, non-specific signs like fatigue, weakness, numbness, paresthesia, and muscle cramps, restlessness, malaise, sleep disturbance, painful burning sensation in foot (burning foot syndrome)Pantothenic Acid Deficiency
Deficiency seen in chronic alcoholics, Isoniazid therapy for TB, Women taking oral contraceptive pills, infants fed with deficient formulasPyridoxine Deficiency
Peripheral neuropathy, personality changes including depression, confusion, convulsions, insomnia, restlessness, microcytic hypochromic anemia, homocysteinemia and increased risk of cardiovascular eventsPyridoxine Deficiency
Deficiency manifestation: non-specific, dermatitis, glossitis, alopecia, loss of appetiteBiotin Deficiency
Megaloblastic anemia, hypochromic RBCs, macrocytosis, hypersegmented neutrophils, anisocytosis, poikilocytosisFolic acid Deficiency
Deficiency manifestations include megaloblastic anemia, neurologic manifestations including bilateral neuropathy or degeneration (demyelination) of the dorsal and lateral spinal columns, methylmalonic acidemia and aciduriaCobalamin Deficiency
Xerophthalmia, night blindness, conjunctival xerosis, Bitot’s spots, corneal ulceration and necrosis, Keratomalacia, follicular hyperkeratosis, poses an increased risk of mortality from diarrhea, dysentery, measles, and respiratory disease, can compromise barrier and innate and acquired immune defenses to infectionRetinol Deficiency
Acute toxicity: increased intracranial pressure, vertigo, diplopia, bulging fontanels in children, seizures, and exfoliate dermatitis; it may result in death.Acute Retinol Toxicity
Chronic toxicity: dry skin (scaly dermatitis), cheilosis, glossitis, vomiting, alopecia, bone demineralization and pain, hypercalcemia, lymph node enlargement, hyperlipidemia, amenorrhea, hepatosplenomegaly, and features of pseudotumor cerebri with increased intracranial pressure and papilledema.Chronic Retinol Toxicity
Toxicity during pregnancy can lead to congenital malformations (abortions, craniofacial anomalies, valvular heart disease).Retinol Toxicity
Long standing deficiency results in hypocalcemia accompanied by secondary hyperparathyroidism, impaired mineralization of the skeleton and proximal myopathy, most common cause of rickets and osteomalacia.Cholecalciferol Deficiency
Deficiency is seen in only severe and prolonged fat malabsorptive diseases, such as celiac disease, or after small intestinal resection, cystic fibrosis, abetalipoproteinemia.Tocopherol Deficiency
Deficiency manifestations: peripheral neuropathy, hemolytic anemia, skeletal myopathy, degeneration of myelinated axonsTocopherol Deficiency
Deficiency can manifest in patients with cystic fibrosis, Celiac disease and Crohn’s disease, with obstructed biliary tracts, after small bowel resection, prolonged broad spectrum antibiotic treatmentMenaquinone Deficiency
Deficiency manifests with hemorrhagic episodes, prolonged prothrombin time, and reduced clotting factorsMenaquinone Deficiency

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