cpb 16-28 drugs%2cdiseases

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

cpb 16-28 drugs%2cdiseases

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