Inborn Errors Of Metabolism (Lysosomal/glycogen Storage Diseases)

Front 1

Alkaptonuria
(deficient enzyme, accumulated substrate)

Back 1

deficient: homogentisate oxidase
accumulates: homogentisic acid

Front 2

Alkaptonuria
(inheritance)

Back 2

AR

Front 3

Alkaptonuira
(Clinical Presentation)

Back 3

Black urine and cartilage
degenerative arthritis
brown pigmented sclera

Front 4

Galatosemia
(deficient enzyme, accumulated substrate)

Back 4

enzyme: GALT (galactose-1-phosphate uridytransferase)
accumulates: galactose 1-P

Front 5

Galactosemia
(inheritance)

Back 5

AR

Front 6

Galactosemia
(clinical presentation)

Back 6

mental retardation
galactosemia/galactosuria
hypoglycemia
cirrhosis
cataracts
avoid dairy

Front 7

Hereditary Fructose Intolerance
(deficient enzyme, accumulated substrate)

Back 7

deficient: Aldolase B
accumulates: Fructose-1-P (and decreased glucose)

Front 8

Hereditary Fructose Intolerance
(inheritance)

Back 8

AR

Front 9

Hereditary Fructose Intolerance
(clinical presentation)

Back 9

- cirrhosis
- hypoglycemia
- hypophosphatemia
(avoid fructose [honey] and sucrose)

Front 10

Homocystinuria
(deficient enzyme, accumulated substrate)

Back 10

deficient: cystathionine synthase
accumulates: homocysteine and methionine

Front 11

Homocystinuria
(inheritance)

Back 11

AR

Front 12

Homocystinuria
(clinical pres)

Back 12

mental retardation
vessel thrombosis
lens dislocation
arachnodactyly
(tx w/ decreased met, increased cys, B12, and folate)

Front 13

Maple syrup urine disease
(deficient enzyme, accumulated substrate)

Back 13

deficient: branched-chain alpha-ketoacid dehydrogenase
accumulates: leucine, valine, isoleucine, and their ketoacids

Front 14

Maple syrup urine disease
(inheritance)

Back 14

AR

Front 15

Maple syrup urine disease
(clin pres)

Back 15

mental retardation
seizures
feeding problems
sweet-smelling urine
death

Front 16

Phenylketonuria
(deficient enzyme, accumulated substrate)

Back 16

deficient: phenyalanine hydroxylase
accumulates: phenylalanine

Front 17

Phenylketonuria
(inheritance)

Back 17

AR

Front 18

Phenylketonuria
(clinical pres)

Back 18

mental retardation
microcephaly
mousy odor
decreased pigmentation
eczema
growth retardation
exposure to phenylalanine (eg milk) causes increase
Tx: decrease Phy and increase tyrosine

Front 19

McArdle's Disease (Type V)
(deficient enzyme, accumulated substrate)

Back 19

deficient: SKELETAL MUSCLE glycogen phosphorylase
accumulates: glycogen in muscle

Front 20

McArdle's Disease (Type V)
(inheritance)

Back 20

AR

Front 21

McArdle's Disease (Type V)
(clinical pres)

Back 21

muscle cramps
dark urine after exercise
no lactic acid increase with exercise

Front 22

Cori's Disease (Type III)
(deficient enzyme, accumulated substrate)

Back 22

deficient: debranching enzyme (alpha-1,6-glucosidase)
accumulates: slight increase in glycogen in liver, NO INCREASE IN BLOOD LACTATE (unlike type I)

Front 23

Cori's Disease (Type III)
(inheritance)

Back 23

AR

Front 24

Cori's Disease (Type III)
(clinical pres)

Back 24

intact gluconeogenesis
fasting hypoglycemia
glycogen in liver

Front 25

Pompe's Disease (type II)
(deficient enzyme, accumulated substrate)

Back 25

deficient: lysosomal alpha-1,4,-glucosidase
accumulates: glycogen

Front 26

Pompe's Disease (type II)
(inheritance)

Back 26

AR

Front 27

Pompe's Disease (type II)
(clinical pres)

Back 27

glycogenosis
cardiomegaly and systemic findings with early death
(Pompe's trashes the Pump [heart, liver, lungs])

Front 28

Von Gierke's Disease (type I)
(deficient enzyme, accumulated substrate)

Back 28

deficient: glucose-6-phosphotase
accumulates: glucose-6-phosphate

Front 29

Von Gierke's Disease (type 1)
(clinical pres)

Back 29

glycogenosis
hepatomegally
glycogen in liver (lots!)
severe fasting hypoglycemia
no response to glucagon

Front 30

Gaucher's disease (adult type)
(deficient enzyme, accumulated substrate)

Back 30

deficient: glucocerebrosidase
accumulates: glucocerebroside

Front 31

Hurler's syndrome
(deficient enzyme, accumulated substrate)

Back 31

deficient: alpha-L-iduronidase
accumulates: dermatan and heparan sulfate

Front 32

Hurler's syndrome
(clinical presentation)

Back 32

mental retardation
coarse facial features
short neck
corneal clouding
CAD

Front 33

Hurler's syndrome
(inheritance)

Back 33

usually AR
X-linked recessive form = milder and called Hunter's syndrome)

Front 34

Hunter's syndrome
(deficient enzyme, accumulated substrate)

Back 34

Deficient: iduronate sulfatase
accumulates: dermatan and heparan sulfate

Front 35

Hunter's syndrome
(clinical presentation)

Back 35

milder form of Hurler's syndrome
aggressive behavior
NO corneal clouding

Front 36

Gaucher's disease (adult type)
(clinical pres)

Back 36

hepatosplenomegaly
fibrillar-appearing macrophages (Gaucher cells) in liver, spleen, bone marrow
aseptic necrosis of femur
bone crisis

Front 37

Fabry's Disease
(deficient enzyme, accumulated substrate)

Back 37

Deficient: alpha-galactosidase A
accumulates: ceramide trihexoside

Front 38

Fabry's Disease
(inheritance)

Back 38

X-linked recessive

Front 39

Fabry's Disease
(clinical presentation)

Back 39

peripheral neuropathy of hands/feet
angiokeratomas
cardiovascular/renal disease

Front 40

Niemann-Pick disease
(deficient enzyme, accumulated substrate)

Back 40

Deficient: sphingomyelinase
accumulates: sphingomyelin

Front 41

Neimann-Pick disease
(clinical pres)

Back 41

progressive neurodegeneration
HEPATOSPLENOMEGALY
cherry-red spot on macula
foam cells (soap bubble cytoplasm)
mental retardation

Front 42

Tay-Sachs disease
(deficient enzyme, accumulated substrate)

Back 42

deficient: hexosaminidase A
accumulates: GM2ganglioside

Front 43

Tay-Sachs disease
(clinical pres)

Back 43

progressive neurodegeneration
developmental delay
cherry red spot on macula
blindness
lysosomes with onion skin
NO HEPATOSPLENOMEG

Front 44

Krabbe's disease
(deficient enzyme, accumulated substrate)

Back 44

deficient: galactocerebrosidase
accumulates: galactocerebroside

Front 45

Krabbe's disease
(clinical pres)

Back 45

peripheral neuropathy
developmental delay
optic atrophy
globoid cells

Front 46

Metachromatic leukodystrophy
(deficient enzyme, accumulated substrate)

Back 46

deficient: arylsulfatase A
accumulates: cerebroside sulfate

Front 47

metachromatic leukodystrophy
(clinical presentation)

Back 47

central and peripheral demyelination
ataxia
dementia