I-
Von
Gerke
Glucose-6-phosphatase
AR.
Severe
fas@ng
hypoglycemia,
glycogen
in
liver.
blood
lactate.
Hepatomegaly.
GALACTOSE
FRUCTOSE
Galactokinase
deciency
Galactokinase
Essen-al
fructosuria
Fructokinase
Fructose
Intolerance
Aldolase
B
II-
Pompe
Lysosomal
-1,4-glucosidase
(acid
maltase)
AR.
Cardiomegaly,
early
death.
glycogen
in
vacuoles
of
lysosomes.
Normal
blood
sugar
and
glycogen
structure.
NITROGEN
Classic
Galactosemia
Galactose-1-phosphate
uridyltransferase
Hyperammonemia
N-acetylglutamate
Deciency
Presenta@on
is
iden@cal
to
carbamoyl
phosphate
synthetase
I
deciency.
However,ornithine
with
normal
urea
cycle
enzymes
suggests
hereditary
N-
acetylglutamate
deciency.
Ornithine
Transcarbamylase
XLR.
(other
urea
enxymes
deciencies
are
AR).
Interferes
with
the
bodys
ability
to
eliminate
ammonia.
O[en
evident
in
the
rst
few
days
of
life,
but
may
present
with
late
onset.
Excess
carbamoyl
phosphate
is
converted
to
oro@c
acid
(part
of
the
pyrimidine
synthesis
pathway).
Findings:oro@c
acid
in
blood
and
urine,BUN,
symptoms
of
hyperammonemia.
No
megaloblas@c
anemia
(vs.
oro@c
aciduria).
CATECHOLAMINES
PKU
Phenylalanine
Hydroxylase
Tetrahydrobioterin
(Malignant
PKU)
intellectual
disability,
growth
retarda@on,
seizures,
fair
skin,
eczema,
musty
body
odor.
III-Cori
Debranching,
-1,6-glucosidase
AR.
Milder
type
I
with
normal
lactate,
gluconeogenesis
intact.
Glycogen
with
short
branches
Alkaptonuria
(ochronosis)
Homogentsate
oxidase
AR.
Benign.
Findings:
dark
connec@ve
@ssue,
brown
pigmented
sclerae,
urine
turns
black
on
prolonged
exposure
to
air.
May
have
debilita@ng
arthralgias
(homogen@sic
acid
toxic
to
car@lage).
IV-
Andersens
Branching,
4,6
transferase
Long,
unbranched
glycogen.
Cirrhosis,
early
death.
Homocys@nuria
Cystathionine
Synthase
(Tx:
methionine,
cys@ene,
B12,
folate)
Cystathionine
synthase
anity
for
PLP
(Tc:
B6
&
cysteine)
Homocysteine
Methyltransferase/Methionine
Synthast
(Tx:
methionine)
homocysteine
in
urine,
intellectual
disability,
osteoporosis,
tall
stature,
kyphosis,
lens
subluxa@on
(downward
and
inward),
thrombosis,
and
atherosclerosis
(stroke
and
MI).
V-
McArdle
Skeletal
muscle
glycogen
phosphorylase
AR.
normal
glycogen
in
muscle,
but
cannot
break
it
down,
leading
to
painful
muscle
cramps,
myoglobinuria
(red
urine)
with
strenuous
exercise,
and
arrhythmia
from
electrolyte
abnormali@es.
VI-
Hers
HepaDc
Glycogen
phosphorylase
VII-
PFK-1
Deciency
Hemoly@c
anemia,
hemoglobinuria,
myoglobinuria.
Cys@nuria
AR,
common.
Hereditary
defect
of
renal
PCT
and
intes@nal
amino
acid
transporter
for
Cysteine,
Ornithine,
Lysine,
and
Arginine
Excess
cys@ne
in
the
urine
can
lead
to
precipita@on
of
hexagonal
cys@ne
stones.
Urinary
cyanide-nitroprusside
test
is
diagnos@c.
Tx:
urinary
alkaliniza@on
(e.g.,
potassium
citrate,
acetazolamide)
and
chela@ng
agentssolubility
of
cys@ne
stones;
good
hydra@on.
Cys@ne
is
made
of
2
cysteines
connected
by
a
disulde
bond.
FaNy
Acids
Carni-ne
deciency
inability
to
transport
LCFAs
into
the
mitochondria,
resul@ng
in
toxic
accumula@on.
Causes
weakness,
hypotonia,
and
hypoketo@c
hypoglycemia.
Acyl-CoA
Dehydrogenase
Deciency
MCAD
B1/Thiamine
Def:
Wernicke-Korsako,
beriberi
(dry-
poly
neuri@s,
symmetric
muscle
was@ng.
Wet-
high
output
cardiac
failure/
dilated
cardiomyopathy,
edema).
transketolase
ac@vity
following
B1
administra@on
B5/Pantothenate
(CoA)
Def:
Derma@@s,
enteri@s,
alopecia,
adrenal
insuciency
B6/Pyridoxine
(PLP)
Deciency
may
be
induced
by
isoniazid
and
oral
contracep@ves.
Def:
Convulsions,
hyperirritability,
peripheral
neuropathy,
sideroblas@c
anemia
due
to
impaired
heme
synthesis
and
iron
excess
B9/Folate
MC.
Deciency
can
be
induced
by
drugs
(phenytoin,
sulfonamides,
methotrexate),
jejunal
resec@on,
leafy
green
intake.
Def:
Macrocy@c,
megaloblas@c
anemia,
hypersegmented
PMN.
Glossi@s.
Homocysteine,
normal
methylmalonic
acid.
B12/Cobalamin
Large
reserve
pool
(years)
in
liver).
Deciency
caused
by
insucient
intake
(vegetarian),
malabsorp@on
(sprue,
enteri@s,
Diphyllobothrium
latum,
IF/Pern
anemia/gastric
bypass,
absence
of
terminal
ileum/Crohns.
Def:
Macrocy@c,
megalo
anemia,
hyperseg
PMNs,
paresthesias
&
subacute
combined
degenera@on
(DCs,
lateral
CST,
spinocerebellar
tracts;
due
to
C/Ascorbate
Def:
Scurvy-
swollen
gums,
bruising,
hemarthrosis,
anemia,
poor
wound
healing,
perifollicular
and
subperiosteal
hemorrahes,
corkscrew
hair.
immune
response.
.
hydroxyla@on
of
proline
E/Tocopherol
Def:
Hemoly@c
anemia,
acanthocytosis,
muscle
weakness,
posterior
column
and
spinocerebellar
tract
demyelina@on
(similar
to
B12
def
but
without
megaloblas@c
K
Made
in
intes@nal
ora.
Not
present
in
breast
milk;
neonates
need
injec@ons.
Neonatal
hemorrhage
with
PT
&
PTT,
normal
bleeding
@me.
May
also
occur
a[er
prolonged
use
of
an@bio@cs.
B7/Bio-n
Deciency
caused
by
an@bio@c
use
or
inges@on
of
raw
eggs.
Def:
Derma@@s,
alopecia,
enteri@s.
Cynthia
Czawlytko
FA
2014