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Metabolism - Enzyme Disorders (*Enzyme-Deficient Genetic Disorders…
Metabolism - Enzyme Disorders
*Enzyme-Deficient Genetic Disorders
Tay-Sachs and RETT - regression of development diseaases
present similar with normal development of infants at first, BUT then regression of development
Tay-sachs regression starts much more earlier though than RETTs syndrome
-->
TAY - SIX
= ante 6 months
--> Tay-sachs = < 6 months --> start to regress
RETT = > 6 months --> regress after 6 months
--> more common in
girls
RETT - regression of development diseaases
present similar with normal development of infants at first, BUT then regression of development
Tay-sachs regression starts much more earlier though than RETTs syndrome
-->
TAY - SIX
= ante 6 months
--> Tay-sachs = < 6 months --> start to regress
RETT = > 6 months --> regress after 6 months
--> more common in
girls
Clinical Cases
Clinical Case
Clinical Case
Notes
:
note that
*Tay-Sachs Disease
Beta-hexosaminase deficiency
build up of GM2-ganglioside = glycolipid in the brain
patients die by ages 2-5
high in AShkenazi Jewish population
Clinical Cases
Tay-Sachs Disease example
Notes
:
note that Tay-Sachs infants are normal for the first few months, and then they start to show neurodegenerative signs
it affects the Azekenazi Jewish population
Case example:
Clinical Case
Clinical Case
Notes
:
note that
*Tay-Sachs Disease Common presentation
can present similar to
RETT syndrome
with normal development of infants at first, BUT then regression of development
--> Tay-sachs regression starts much more earlier though than RETTs syndrome
--> Tay-sachs = < 6 months --> start to regress
red spot on macula
--> eye examination
*Tay-Sachs Disease and TB - Heterozygous advantage
similar to heterozygous advantage in sickle cell disease and malaria
JEWISH secrete to avoid TB
Notes
:
note that Tay-Sachs was one of the first autosomal recessive disorders that could be screened for
because it is so common in Azekenazi Jews they have free genetic screening in Israel
there are hypotheses that Tay-Sachs has a genetic advantage for Heterozygous carriers against TB
--> similar to heterozygous protection of sickle cell anemia against malaria for Africans
note most enzyme deficiency disorders are autosomal recessive
Classic Galactosemia = galactose - 1 -phosphate uridyl trasnferase deficiency
Classic Galactosemia = galactose - 1 -phosphate uridyl trasnferase deficiency
Notes
:
note that classic galactosemia is an autosomal recessive disorder
lactose converts to galactose and it cannot be broken down
presents when infants start drinking milk with jaundice and emesis
Case example:
Porphyria
PCT = #1 Cause
(Porhyria Cutanea Tarda)
presents with red wine coloured urine
--> porphobilinogen (PBG) build-up
presents also with abdominal cramps
AIP = #2 Cause
(Acute Intermittent Porhyria)
HGPRT = Lesch-Nyhan Syndrome
X-linked recessive
--> mostly young boys
Notes
:
note that because HGPRT is deficient in the purine (AG) salvage pathway,
--> Hypoxanthine and Guanine is shunted away from salvage (to make more A and G)
--> shunted towards Xanthine Oxidase enzyme to make xanthine and then uric acid
HGPRT deficiency is a viscious cycle twofold:
--> 1 = loss of purine salvage pathway and shunt towards high xanthine and uric acid production (by Xanthine oxidase)
--> 2 = need to constantly be producing Adenine and Guanine (from scratch without salvage pathway)
Above, both IMP and AMP converge onto Inosine
--> Inosine is then converted to Hypoxanthine to enter the Purine Salvage / Purine Uric Acid pathway
"Pure Savages can't XSTAND Uric Acid"
--> Pure Savages = purine slavage path
--> XSTAND Uric Acid = Xanthine uric acid path
P/C:
present young
self-mutilating behaviour
--> due to high uric acid levels and deposition systemically
--> biting fingers, tongue and lips
mild intellectual disability
--> accumulation of uric acid
gout
hyperuricemia and hyperuricia
Chronic Granulomatous Disease
= NADPH Oxidase Enzyme Deficiency
can't make reactive oxygen species in phagosomes to kill ingested bacteria
catalase positive bacteria --> can break down reactive oxygen species
catalase = staph cat = staph species
Chronic Granulomatous Disease case 1
Notes
:
note that chronic granulomatous disease is a NADPH enyme deficiency
note that chronic granulomatous disease is NADPH oxidase negative and is called GRANULOMATOUS
--> since it cannot fight off cat Positive bacteria infections
--> has CHRONIC infections
--> forms granulomas to contain the bacteria it can't kill
Clinical Case
PKU and MAple Syrup Urine Disease
BOTH are autosomal recessive
BOTH converge on Krebb's cycle
PKU = Phenylketonuria
autosomal recessive
defect in phenylalanine hydroxylase
PKU case example
example:
Notes
:
note that PKU has excess phenyl aromatic rings
--> AROMATIC = ODOR = musty body odor
PKU = PKSUban is RETARDED, but is a GEM who loves maple syrup from VERMONT
Is = intellectual disability
G = gait abnormality
E = eczema
M = Musty body odour
Maple Syrup Urine Disease
*PURINE DNA pathway disorders
Lesch Nyhan
Syndrome =
HGPRT
--> HAGRIDS IMP GMP
--> HGPRT signs and symptoms
ADA SCID
deficiency
--> ADA = adenosine
*Lesch - Nyhan Syndrome = HGPRT
LEASH NINJA held with an X LINKED LEASH by KOREAN THOR
HGPRT deficient
show HGPRT signs and symptoms
KOREAN THOR HITS HIS TOES keeps GMPS in the back of his shop to make the store music for the shoppers out front who are ignorant of the GMP OPERATION in the basement out back
he has replaced HAGRID the GMP IMP with a new LEASHED X NINJA to HIT the HIPPO XYLOPHONE that makes the store music
KOREAN THOR HITS HIS TOES = choreathetotosis
KOREAN THOR HITS HIS TOES is a MASSICIST who keeps IMPs on X CHAIN LEASHES and SELF MUTILATES himself as well
--> GOUT of HGPRT --. self mutilation
--> finger biting and tongu biting
job of the GMP IMP is to bang on the XYLOPHONE HIPPO all day to make music for the KOREAN THOR
the LEASH NINJA takes over this job
the XYLOPHONE HIPPO belongs to HAGRID the IMP GMP
--> XYLOPHONE HIPPO = hypoxanthine makes IMP
HAGRIDS GIMP was made an IMP after he slipped on the BATS GUANO
BATS GUANO = collection of bat poop in a pile
BATS GUANO + HAGRID = makes GMP
the store out front is run by the ignorant PREPPY BOY who just runs the cash register when the KOREAN HITS HIS TOES MASSICIST is out back hitting his GMP IMP and X LINKED LEASH NINJA
PRPP makes the original IMP when the GMP IMP is not there
PREPPY BOY increases when HGPRT LEASHED NINJA not making music on the HIPPO XYLOPHONE
*ADA SCID deficiency
-
ADA DENTISTS keep a pile of ATP COINS next to them to CONTINUE to sing karayoke at the CLUB to IMPRESS INSYNC
this all inhibits the REDBULL on RED DUCK SLED with TENNIS BALL CELLS and BASKETBALL CELLS wheels who SCIDs in late to the club and
the REDBULL on RED DUCK is pissed by the piled up ATP COINS of the ADA DENTISTS
he had a whole show planned to IMPRESS INSYNC that involved his REDBULL on RED DUCK SCID SLED and its TENNIS BALL CELL and BASCKET BALL CELL wheels
