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Alvarez, Ronilyn A. Class Code: 14 BSN II-B

February 22, 201

PROTEIN METABOLIC DISORDERS

1. Al!a"#onuria $bla%! urine disease, bla%! bone disease, or al%a"#onuria& is a rare in'eri#ed

(ene#i% disorder in )'i%' #'e body %anno# "ro%ess #'e a*ino a%ids "'enylalanine and

#yrosine, )'i%' o%%ur in "ro#ein. I# is %aused by a *u#a#ion in #'e + (ene or #'e

enzy*e 'o*o(en#isa#e 1,2-dio/y(enase $C 1.1.11.&3 i a "erson in'eri#s abnor*al

%o"ies ro* ea%' "aren# $i# is a re%essive %ondi#ion& #'e body a%%u*ula#es an in#er*edia#e

subs#an%e %alled 'o*o(en#isi% a%id in #'e blood and #issues. +o*o(en#isi% a%id and i#s

o/ida#ed or* al!a"#on are e/%re#ed in #'e urine, (ivin( i# an unusually dar! %olor. 'e

a%%u*ula#in( 'o*o(en#isi% a%id %auses da*a(e #o %ar#ila(e $o%'ronosis, leadin( #o

os#eoar#'ri#is& and 'ear# valves as )ell as "re%i"i#a#in( as !idney s#ones and s#ones in

o#'er or(ans. Sy*"#o*s usually develo" in "eo"le over #'ir#y years old, al#'ou(' #'e dar!

dis%olora#ion o #'e urine is "resen# ro* bir#'.2. 5e#'yl*aloni% a%ide*ia $55A&, also %alled *e#'yl*aloni% a%iduria, 6rs# %'ara%#erized by

7ber'olzer e# al. in 189, is an au#oso*al re%essive *e#aboli% disorder. I# is a %lassi%al

#y"e o or(ani% a%ide*ia. 'e resul# o #'is %ondi#ion is #'e inabili#y #o "ro"erly di(es#

s"e%i6% a#s and "ro#eins, )'i%' in #urn leads #o a buildu" o a #o/i% level o *e#'yl*aloni%

a%id in #'e blood.. 5a"le syru" urine disease $5S&, also %alled bran%'ed-%'ain !e#oa%iduria, is an

au#oso*al re%essive *e#aboli% disorder a;e%#in( bran%'ed-%'ain a*ino a%ids. I# is one

#y"e o or(ani% a%ide*ia. 'e %ondi#ion (e#s i#s na*e ro* #'e dis#in%#ive s)ee# odor o

a;e%#ed inan#s< urine, "ar#i%ularly "rior #o dia(nosis, and durin( #i*es o a%u#e illness.4. Classi%al 'o*o%ys#inuria, also !no)n as %ys#a#'ionine be#a syn#'ase de6%ien%y or CBS

de6%ien%y, is an in'eri#ed disorder o #'e *e#abolis* o #'e a*ino a%id *e#'ionine, o#en

involvin( %ys#a#'ionine be#a syn#'ase. I# is an in'eri#ed au#oso*al re%essive #rai#, )'i%'

*eans a %'ild needs #o in'eri# a %o"y o #'e dee%#ive (ene ro* bo#' "aren#s #o be

a;e%#ed.. yrosine*ia $or =yrosinae*ia=& is an error o *e#abolis*, usually inborn, in )'i%' #'e

body %anno# e;e%#ively brea! do)n #'e a*ino a%id #yrosine. Sy*"#o*s in%lude liver and

!idney dis#urban%es and *en#al re#arda#ion. n#rea#ed, #yrosine*ia %an be a#al. 5os#

inborn or*s o #yrosine*ia "rodu%e 'y"er#yrosine*ia $'i(' levels o #yrosine&.. ri*e#'yla*inuria $5A&, as de6ned by #'e >I5 %onsor#iu* o endo%rinolo(y disorders as

6s' odor syndro*e or 6s' *alodor syndro*e, is a rare *e#aboli% disorder #'a# %auses a

dee%# in #'e nor*al "rodu%#ion o an enzy*e na*ed ?avin-%on#ainin( *onoo/y(enase

$F57&. @'en F57 is no# )or!in( %orre%#ly or i no# enou(' enzy*e is "rodu%ed, #'e

body loses #'e abili#y #o "ro"erly %onver# #ri*e#'yla*ine $5A& ro* "re%ursor %o*"ounds

in ood di(es#ion in#o #ri*e#'yla*ine o/ide $5A7&, #'rou(' a "ro%ess %alled N-


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o/y(ena#ion. ri*e#'yla*ine #'en builds u" and is released in #'e "erson


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disorders. 'e urea %y%le is a seEuen%e o %'e*i%al rea%#ions #a!in( "la%e in #'e liver.

'ese rea%#ions "ro%ess e/%ess ni#ro(en, (enera#ed )'en "ro#ein is used or ener(y by

#'e body, #o *a!e urea, )'i%' is e/%re#ed by #'e !idneys.12.Ar(inine*ia, also %alled ar(inase de6%ien%y, is an au#oso*al re%essive urea %y%le disorder

)'ere a de6%ien%y o #'e enzy*e ar(inase %auses a buildu" o ar(inine and a**onia in

#'e blood. A**onia, )'i%' is or*ed )'en "ro#eins are bro!en do)n in #'e body, is #o/i%

i levels be%o*e #oo 'i('. 'e nervous sys#e* is es"e%ially sensi#ive #o #'e e;e%#s oe/%ess a**onia.

1.+y"er'o*o%ys#eine*ia or 'y"er'o*o%ys#einae*ia is a *edi%al %ondi#ion %'ara%#erized

by an abnor*ally 'i(' level o 'o*o%ys#eine in #'e blood, %onven#ionally des%ribed as

above 1 G*olH. As a %onseEuen%e o #'e bio%'e*i%al rea%#ions in )'i%' 'o*o%ys#eine is

involved, de6%ien%ies o vi#a*in B, oli% a%id $vi#a*in B8&, and vi#a*in B12 %an lead #o

'i(' 'o*o%ys#eine levels. +y"er'o*o%ys#eine*ia is #y"i%ally *ana(ed )i#' vi#a*in B,

vi#a*in B8 and vi#a*in B12 su""le*en#a#ion. aurine su""le*en#a#ion also 'as been

ound #o redu%e 'o*o%ys#eine levels.14.+y"er*e#'ionine*ia is an e/%ess o #'e a*ino a%id *e#'ionine, in #'e blood. 'is

%ondi#ion %an o%%ur )'en *e#'ionine is no# bro!en do)n "ro"erly in #'e body.1.+y"erlysine*ia is an au#oso*al re%essive *e#aboli% disorder %'ara%#erized by an

abnor*al in%rease o lysine in #'e blood, bu# a""ears #o be beni(n. I# is %aused by

*u#a#ions in AASS, )'i%' en%odes -a*inoadi"i% se*ialde'yde syn#'ase. +y"erlysine*ia

is asso%ia#ed )i#' e%#o"ia len#is $a dis"la%e*en# or *al"osi#ion o #'e eye+& is a rare

au#oso*al re%essive disorder o (ly%ine *e#abolis*. A#er "'enyl!e#onuria, (ly%ine

en%e"'alo"a#'y is #'e se%ond *os# %o**on disorder o a*ino a%id *e#abolis*. 'e

disease is %aused by dee%#s in #'e (ly%ine %leava(e sys#e*, an enzy*e res"onsible or

(ly%ine %a#abolis*. 'ere are several or*s o #'e disease, )i#' varyin( severi#y o

sy*"#o*s and #i*e o onse#. 'e sy*"#o*s are e/%lusively neurolo(i%al in na#ure, and

%lini%ally #'is disorder is %'ara%#erized by abnor*ally 'i(' levels o #'e a*ino a%id (ly%ine

in bodily ?uids and #issues, es"e%ially #'e %erebral s"inal ?uid.19.ro"ioni% a%ide*ia, also !no)n as "ro"ioni% a%iduria, "ro"ionyl-CoA %arbo/ylase

de6%ien%y and !e#o#i% (ly%ine*ia, is an au#oso*al re%essive *e#aboli% disorder, %lassi6ed

as a bran%'ed-%'ain or(ani% a%ide*ia. 'e disorder "resen#s in #'e early neona#al "eriod

)i#' "ro(ressive en%e"'alo"a#'y. ea#' %an o%%ur Eui%!ly, due #o se%ondary

'y"era**one*ia, ine%#ion, %ardio*yo"a#'y, or basal (an(lial s#ro!e. ro"ioni% a%ide*ia

is a rare disorder #'a# is in'eri#ed ro* bo#' "aren#s. Bein( au#oso*al re%essive, nei#'er

"aren# s'o)s sy*"#o*s, bu# bo#' %arry a dee%#ive (ene res"onsible or #'is disease. I#

#a!es #)o aul#y (enes #o %ause A, so #'ere is a 1 in 4 %'an%e or #'ese "aren#s #o 'ave a

%'ild )i#' A.


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1.+y"er"roline*ia, also reerred #o as "roline*ia or "rolinuria, is a %ondi#ion )'i%' o%%urs

)'en #'e a*ino a%id "roline is no# bro!en do)n "ro"erly by #'e enzy*es "roline o/idase

or "yrroline--%arbo/yla#e de'ydro(enase, %ausin( a buildu" o "roline in #'e body.

Reeren%e: 5en!es, J. $1891&. isorders o a*ino a%id *e#abolis*--1891. Caliornia 5edi%ine,

11$4&, 14. Re#rieved ro* '##":HH))).n%bi.nl*.ni'.(ovH"*%Har#i%lesH5C11982H

@i!i"edia,. $201&. Con(eni#al disorders o a*ino a%id *e#abolis*. Re#rieved 21 February 201,

ro* '##"s:HHen.)i!i"edia.or(H)i!iHCon(eni#alKdisordersKoKa*inoKa%idK*e#abolis*

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