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8/13/2019 CPB 16-28 Drugs%2cDiseases
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CPB 16 – 28 – Diseases, Drugs and Clinical Examples
Haemosiderosis
• Accumulation of ferritin and hemosiderin
• eads to free radical generation
Haemochromatosis
• Progressi!e haemosiderosis
• "esults in organ damage
• Associated #ith mutation in the $%E gene
• &reated #ith' repeated phle(otom) * iron chelator' desferrioxamine
Iron Deficiency
• +ost common micronutrient deficienc)
• torage ion is mo(ili-ed first, haemoglo(in s)nthesis impaired
• "esults in microc)tic h)pochromic anaemia
• &reated #ith' .ron supplements
Hyperammonaemia
•
Clinical Presentation' slurring of speech, (lurred !ision, coarse flapping tremor, mentalconfusion progressing to coma and death
• Caused ()' i!er cirrhosis, intestinal (acterial o!erload, urea c)cle defects, in(orn errors
of meta(olism/
Renal Failure
• Blood urea increases causing uramia
Glycogen Storage Disorders (GSDs)
•
A(normal s)nthesis or degradation of gl)cogen due to a defect in the genes coding foren-)mes in!ol!ed in gl)cogen meta(olism
• 0Ds affect the li!er and muscle and disease presentation and se!erit) depend on the role
pla)ed () the en-)me and its tissue specificit)
• Signs' $)pogl)caemia and muscle pain*cramps*#eaness
• GSD V – Mcrdle Disease
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o +uscle phosphor)lase deficienc)
o +uscle fatigue, m)oglo(inuria
• GSD I – Von Gier!e"s Disease
o 06P deficienc), h)pogl)caemia, lactic acidosis, etosis, hepatomegal)
• GSD II – #ompe"s Disease
o )sosomal defienc), cardiomegal), char EC0, muscle #eaness, death 2 )rs
Medium $hain cyl%$o Dehydrogenase Deficiency (M$DD)
• .ntolerance to prolonged fasting, h)pogl)caemia, impaired etogenesis, recurrent
episodes of h)pogl)caemic coma #ith an associated mediumchain dicar(ox)lic aciduria
• &reatment' A!oid fasting and glucose supplements
Hereditary Myopathy &ith 'actic cidosis
• Autosomal recessi!e muscular disorder
• Exercise intolerance 3childhood onset4 muscle tenderness*cramps*d)spnea*palpitations
• actic acidosis, chronic
#yruate Dehydrogenase Deficiency
• An inherited 35lined4 genetic defect #hich results on congenital lactic acidosis
• P)ru!ate is con!erted to lactic acid instead of Acet)lCoA
• De!elopmental defects, muscular spacticit), earl) death 3no therap) exists4
rsenic poisoning
• Arsenic is an inhi(itor of en-)mes that use lipoic acid as a cofactor
o .nhi(its p)ru!ate deh)drogenase
• eurological distur(ances and death
Vitamin Deficiencies
• CoA 7 Panthotenic acid 3B4
• AD 7 iacin 3B94
• %AD 7 "i(ofla!in 3B24 3lac of inhi(its $omple I)
• &PP 7 &hiamine 3B14
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• A deficienc) in an) of these can result in loss of function of p)ru!ate deh)drogenase
function
• P)ru!ate, lactate and alanine le!els go up
• e!ere letharg) and fatigue
• Dooru*icin inhi(its at $o+
• Iron deficienc) inhi(its an) of the %econtaining complexes
• $n and $, inhi(it $omple IV – compete #ith :2 for (inding
• -# synthase inhi*itor' ,ligomycin 3closes $ channels, : A&P4
,.#H,S Diseases (Mitochondrial)
• Common disorders' Parinson;s, Al-heimers, Cardiom)opathies
•
Effects high demand tissues' heart, muscle, ner!ous, idne)
• 'e*er hereditary optic neuropathy
o Point mutation in su(unit of 3.4, 3..4, or 3.
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• Benign condition and fructose accumulates in urine