How can we help?

You can also find more resources in our Help Center.

Study sets matching "storage diseases"

Study sets
Classes
Users

Study sets matching "storage diseases"

10 terms
Storage diseases
Tay-Sachs (gangliosidosis)
Niemann-Pick A + B
Niemann-Pick C
Gaucher
Enzyme: deficiency of b-hexosaminodase A... Ganglioside build u…
Enzyme: Sphingomyelinase... Sphingomyelin build up in neurons a…
No enzyme deficiency!!!! NPC1 + 2 gene mutation.... Results in…
Enzyme: Glucocerebrosidase... Build up of glucocerebroside. Aff…
Tay-Sachs (gangliosidosis)
Enzyme: deficiency of b-hexosaminodase A... Ganglioside build u…
Niemann-Pick A + B
Enzyme: Sphingomyelinase... Sphingomyelin build up in neurons a…
Storage Diseases
Von Gierke disease (type I)
Glucose-6-phosphatase
Pompe disease (type II)
Lysosomal alpha-1,4-glucosidase (acid…
Glycogen storage disease presenting with massively increased…
Enzyme deficient in Von gierke disease (Type I glycogen stora…
Glycogen storage disease presenting with cardiomegaly, *hyper…
Enzyme deficient in Pompe disease (Type II)
Von Gierke disease (type I)
Glycogen storage disease presenting with massively increased…
Glucose-6-phosphatase
Enzyme deficient in Von gierke disease (Type I glycogen stora…
12 terms
Storage Diseases
Von Gierke's disease
Pompe's disease
Cori's disease
McArdle's disease
Glycogen storage disease type I. Deficient enzyme: glucose-6-…
Glycogen storage disease type II. Deficient enzyme: lysosomal…
Glycogen storage disease type III. Deficient enzyme: debranch…
Glycogen storage disease type V. Deficient enzyme: skeletal m…
Von Gierke's disease
Glycogen storage disease type I. Deficient enzyme: glucose-6-…
Pompe's disease
Glycogen storage disease type II. Deficient enzyme: lysosomal…
13 terms
Storage Diseases
Fabry disease
Gaucher Disease
Niemann-Pick Disease
Tay-Sachs Disease
Deficient enzyme: alpha galactosidase A ... Accumulated: Ceramid…
Deficient: Glucocerebrosidase (B-glucosidase)... Accumulated: Gl…
Deficient: Sphingomyelinase... Accumulated: Sphingomyelin... Findin…
Deficient: Hexosaminidase A... Accumulated: GM2 ganglioside... Find…
Fabry disease
Deficient enzyme: alpha galactosidase A ... Accumulated: Ceramid…
Gaucher Disease
Deficient: Glucocerebrosidase (B-glucosidase)... Accumulated: Gl…
8 terms
Storage diseases
Fabry disease
gaucher disease
Niemann-Pick disease
Tay-Sachs disease
XR, deficient alpha galactosidase A. Accumulated ceramide tri…
deficient glucocererbrosidase (Beta-glucosidase). Accumulated…
Deficient Sphingomyelinase. Accumulated sphingomyelin
Deficient Hexosaminidase A. Accumulated GM2 ganglioside
Fabry disease
XR, deficient alpha galactosidase A. Accumulated ceramide tri…
gaucher disease
deficient glucocererbrosidase (Beta-glucosidase). Accumulated…
11 terms
Storage Diseases
Gaucher Disease (most common)
Niemann-Pick Disease
Tay-Sach's Disease
Krabbe Disease (demyelinating disease)
-GLUCOCEREBROSIDASE (+ glucocerebroside)... -AR... -Hepatosplenome…
-SPHINGOMYELINASE (+ sphingomyelin)... -AR... -Hepatosplenomegaly,…
-HEXOSAMINIDASE A (+ GM2 ganglioside)... -AR... -NO HEPATOSPLENOME…
-GALACTOCEREBROSIDASE (+ galactocerebroside)... -AR... -Peripheral…
Gaucher Disease (most common)
-GLUCOCEREBROSIDASE (+ glucocerebroside)... -AR... -Hepatosplenome…
Niemann-Pick Disease
-SPHINGOMYELINASE (+ sphingomyelin)... -AR... -Hepatosplenomegaly,…
32 terms
Storage Diseases
Most Common Cause of Cold
Glycogen Storage Diseases Numbers
Glycogen Storage Disease Inheritance
Von Gierke Disease Sx
Rhinovirus - most common... Coronoavirus - second most common
***Very Poor Carb Metabolism... Type I - Very - Von Gierke Disea…
All are auto recessive ... - just like most enzyme disorders....…
Severe fasting hypoglycemia - can't get any sugar out... increas…
Most Common Cause of Cold
Rhinovirus - most common... Coronoavirus - second most common
Glycogen Storage Diseases Numbers
***Very Poor Carb Metabolism... Type I - Very - Von Gierke Disea…
Storage Diseases
Von Gierke Disease
Pompe Disease
Cori Disease
McArdle Disease
Glycogen Storage Disease... Absence of glucose-6-phosphatase
Glycogen Storage Disease... Absence of *Lysosomal alpha-1,4-glu…
Glycogen Storage Disease... Absence of Debranching Enzyme... In…
Glycogen Storage Disease... Absence of *Skeletal muscle glycoge…
Von Gierke Disease
Glycogen Storage Disease... Absence of glucose-6-phosphatase
Pompe Disease
Glycogen Storage Disease... Absence of *Lysosomal alpha-1,4-glu…
14 terms
`Storage Diseases
Fabry Disease
Lysosomal Storage Diseases
Gaucher
Niemann-Pick
Enzyme: a-galactosidase A. ... Accumulated: Ceramide trihexoside…
Sphingolipidases: Fabry, Gaucher, Neiman-Pick, Tay-Sachs, Kra…
Enzyme: Glucocerebrosidase (B-glucosidase)... Accumulated: Gluco…
Enzyme: Sphingomyelinase... Accumulated: Sphingomyelin. ... Finding…
Fabry Disease
Enzyme: a-galactosidase A. ... Accumulated: Ceramide trihexoside…
Lysosomal Storage Diseases
Sphingolipidases: Fabry, Gaucher, Neiman-Pick, Tay-Sachs, Kra…
24 terms
storage diseases
fabry
fabry
gaucher
gaucher
peripheral neuropathy of hands/feet; angiokeratomas; cardiova…
deficient a-galactosidase A... accum ceramide trihexoside
HSM, pancytopenia, aseptic necrosis of femur, bone crises, li…
def glucocerebrosidase (B-glucosidase)... accum glucocerebroside
fabry
peripheral neuropathy of hands/feet; angiokeratomas; cardiova…
fabry
deficient a-galactosidase A... accum ceramide trihexoside
10 terms
Storage Diseases
Niemann Pick deficiency
Niemann Pick
Tay Sachs deficiency
Tay Sachs
Sphingomyelinase deficiency
Cherry red spot, loss of motor milestones, feeding difficulti…
Beta hexosaminidase A deficiency
Cherry red spot, loss of motor milestones, feeding difficulti…
Niemann Pick deficiency
Sphingomyelinase deficiency
Niemann Pick
Cherry red spot, loss of motor milestones, feeding difficulti…
23 terms
Storage Diseases
deficient alpha-galactosidase A... renal…
build-up of ceramide trihexoside
deficient glucocerebrosidase (beta-glu…
build-up of glucocerebroside
Fabry Disease
Fabry Disease
Gaucher Disease
Gaucher Disease
deficient alpha-galactosidase A... renal…
Fabry Disease
build-up of ceramide trihexoside
Fabry Disease
8 terms
Storage Diseases
Pompe's
Hurler's
Hunter's
Neimann Pick
ENZYME:... • α-1,4-glucosidase... SUBSTANCE:... • glycogen
ENZYME:... • α-L-iduronidase... SUBSTANCE:... • heparan sulphate... •…
ENZYME:... • sc-1-iduronosulfate sulphatase... SUBSTANCE:... • hep…
ENZYME:... • sphingomyelinase... SUBSTANCE:... • sphingomyelin
Pompe's
ENZYME:... • α-1,4-glucosidase... SUBSTANCE:... • glycogen
Hurler's
ENZYME:... • α-L-iduronidase... SUBSTANCE:... • heparan sulphate... •…
13 terms
Storage diseases
Severe fasting hypoglycemia... Increased…
Cardiomegaly... Hypertrophic cardiomyopat…
Milder form of type I with normal bloo…
Increased glycogen in muscle, but musc…
Von Gierke disease (type 1 glycogen storage disease)... Glucose…
Pomp Disease (type II glycogen storage disease)... Lysosomal al…
Cori disease (type III glycogen storage disease)... Debranching…
McArdle disease (type V glycogen storage disease)... Skeletal m…
Severe fasting hypoglycemia... Increased…
Von Gierke disease (type 1 glycogen storage disease)... Glucose…
Cardiomegaly... Hypertrophic cardiomyopat…
Pomp Disease (type II glycogen storage disease)... Lysosomal al…
12 terms
Storage Diseases
Von Gierke disease (type I)
Pompe disease (type II)
Cori disease (type III)
McArdle disease (type IV)
Glucose-6-phosphatase
α-1,4-glucosidase
α-1,6-glucosidase
glycogen phosphorylase
Von Gierke disease (type I)
Glucose-6-phosphatase
Pompe disease (type II)
α-1,4-glucosidase
25 terms
Storage Diseases
Deficiency of glucose 6-phosphatase
Deficiency of lysosomal alpha 1,4-gluc…
Deficiency of myophosphorylase
Deficiency of debranching enzyme (alph…
Von Gierke disease (type I glycogen storage disease)
Pompe disease (type II glycogen storage disease)
McArdle disease (type V glycogen storage disease)
Cori disease (type III glycogen storage disease)
Deficiency of glucose 6-phosphatase
Von Gierke disease (type I glycogen storage disease)
Deficiency of lysosomal alpha 1,4-gluc…
Pompe disease (type II glycogen storage disease)
49 terms
Storage Diseases
deficiency in a-galasctosidase A
accumulation of ceramide trihexoside
episodic peripheral neuropathy, angiok…
late manifestations of fabry disease
fabry disease
fabry disease
fabry disease
renal failure, cardiovascular disease
deficiency in a-galasctosidase A
fabry disease
accumulation of ceramide trihexoside
fabry disease
32 terms
Storage diseases
deficiency in Von Gierke disease
sx of Von Gierke disease
deficiency in Pompe disease
sx of Pompe disease
glucose-6-phosphatase deficiency
severe fasting hypoglycemia, increase glycogen in the liver,…
lysosomal alpha-1,4-glucosidase (acid maltase) deficiency
cardiomyopathy, systemic findings
deficiency in Von Gierke disease
glucose-6-phosphatase deficiency
sx of Von Gierke disease
severe fasting hypoglycemia, increase glycogen in the liver,…
8 terms
storage diseases
peripheral neuropathy, angiokeratomas,…
HSM, pancytopenia, osteoporosis, asept…
neurodegeneration, HSM, foam cells, ch…
neurodegeneration, developmental delay…
Fabry
Gaucher
Niemann-Pick
Tay-Sachs
peripheral neuropathy, angiokeratomas,…
Fabry
HSM, pancytopenia, osteoporosis, asept…
Gaucher
23 terms
Storage diseases
Tay-Sachs... -Def?... -Excess?... -S/S?
Krabbe... -Def?... -Excess?... -S/S?
Metachromatic Leukodystrophy... -Def?... -Ex…
Fabry... -Def?... -Excess?... -S/S?
--Hexosaminidase A deficiency... --Build up of GM2... --Neurodegene…
--Galactocerebrosidase deficiency... --Build up of Galactocerebr…
--Arylsulfatase A deficiency... --Build up of Sulfatides... --Centr…
--Alpha-galactosidase A deficiency... --Build up of Ceramide tri…
Tay-Sachs... -Def?... -Excess?... -S/S?
--Hexosaminidase A deficiency... --Build up of GM2... --Neurodegene…
Krabbe... -Def?... -Excess?... -S/S?
--Galactocerebrosidase deficiency... --Build up of Galactocerebr…
12 terms
Lysosomal & Glycogen Storage diseases
Fabry disease
Gaucher disease
Niemann-Pick disease
Tay-Sachs disease
X-linked recessive, a-galactosidase A deficiency, accumulat…
Most common LSD. Autosomal recessive, glucocerebrosidase de…
Autosomal recessive, sphingomyelinase deficiency, accumulat…
Autosomal recessive, Hexosaminidase A deficiency, accumulat…
Fabry disease
X-linked recessive, a-galactosidase A deficiency, accumulat…
Gaucher disease
Most common LSD. Autosomal recessive, glucocerebrosidase de…
8 terms
Lysosomal Storage Diseases
Fabry Disease
Gaucher Disease
Niemann- Pick Disease
Tay- Sachs Disease
A- galactosidase A --> Ceremide Trihexoside.... Stocking/ Glove…
Glucocerebrosidase --> Glucocerebroside... Hepatosplenomegaly,…
Sphingomyelinase --> Sphingomyelin... Progressive Neurodegenera…
Hexosaminidase A --> GM2 ganglioside... No hepatosplenomegaly,…
Fabry Disease
A- galactosidase A --> Ceremide Trihexoside.... Stocking/ Glove…
Gaucher Disease
Glucocerebrosidase --> Glucocerebroside... Hepatosplenomegaly,…
45 terms
Lysosomal Storage and Glycogen Storage Diseases
Von Gierke disease (type I) findings
Von Gierke disease deficient enzyme
Von Gierke inheritance
Von Gierke treatment
Severe fasting hypoglycemia, increased glycogen in liver, lac…
Glucose-6-phosphatase (leads to a buildup of glycogen)
Autosomal recessive
Frequent oral glucose/cornstarch with avoidance of fructose a…
Von Gierke disease (type I) findings
Severe fasting hypoglycemia, increased glycogen in liver, lac…
Von Gierke disease deficient enzyme
Glucose-6-phosphatase (leads to a buildup of glycogen)
22 terms
Mitochondrial and Lysosomal Storage Diseases
Describe Mitochondrial DNA.
What are Mitochondrial Disorders?
What are some Common features of mitoc…
What is MELAS?
-Circular, double stranded DNA composed of a light strand and…
Clinically heterogeneous group of disorders that arise as a r…
Please excuse pretty Carly since only pigs die.... -Ptosis (dro…
[M]itochondrial [E]ncephalomyopathy... [L]actic [A]cidosis [S]tr…
Describe Mitochondrial DNA.
-Circular, double stranded DNA composed of a light strand and…
What are Mitochondrial Disorders?
Clinically heterogeneous group of disorders that arise as a r…
31 terms
Lysosomal Storage Diseases - Biochemistry
Lysosomal Storage Diseases... -definition?
Sphingolipidoses... -diseases (6)?
Fabry's disease... -deficient enzyme?
Fabry's disease... -accumulated substrate?
Each is caused by a deficiency in one of the many lysosomal e…
Fabry's disease... Gaucher's disease... Niemann-Pick disease... Tay-Sa…
-α-galactosidase A
-Ceramide trihexoside
Lysosomal Storage Diseases... -definition?
Each is caused by a deficiency in one of the many lysosomal e…
Sphingolipidoses... -diseases (6)?
Fabry's disease... Gaucher's disease... Niemann-Pick disease... Tay-Sa…
44 terms
lysosomal storage/glycogen storage diseases
fabry disease
fabry disease
fabry disease (early), krabbe disease
fabry disease (early)
alpha galactosidase A
increase ceramide trihexoside
peripheral neuropathy
angiokeratomas
fabry disease
alpha galactosidase A
fabry disease
increase ceramide trihexoside
12 terms
Glycogen Storage/Lysosomal storage diseases
A boy has weakness, numbness, and pain…
A girl has fractured her arm 3 times i…
A girl presents with unsteady gait, tr…
A boy presents with unsteady gait, tro…
Fabry disease. Deficiency of alpha-galactosidase A, leading t…
Gaucher disease. Deficiency of glucocerebrosidase, leading to…
Niemann-Pick disease. Deficiency of sphingomyelinase, leading…
Tay-Sachs disease. Deficiency of hexoaminidase A, leading to…
A boy has weakness, numbness, and pain…
Fabry disease. Deficiency of alpha-galactosidase A, leading t…
A girl has fractured her arm 3 times i…
Gaucher disease. Deficiency of glucocerebrosidase, leading to…
8 terms
Lysosomal Storage Diseases
Fabry Disease
Gaucher Disease
Neimann-Pick Disease
Tay-Sachs Disease
Deficient: alpha-galactosidase A... Accumulated: ceramide trihe…
Deficient: glucocerebrosidase (beta-glucosidase)... Accumulated…
Deficient: Sphingomyelinase... Accumulated: Sphingomyelin
Deficient: Hexosaminidase A ... Accumulated: GM2 ganglioside
Fabry Disease
Deficient: alpha-galactosidase A... Accumulated: ceramide trihe…
Gaucher Disease
Deficient: glucocerebrosidase (beta-glucosidase)... Accumulated…
9 terms
Lipid Storage diseases
Definition
Pathogenesis
Gaucher's dz
Gaucher's dz lab findings
Deficiency in one or more enzymes in a biochemical pathway de…
Deficiency, normal cell death, macrophages, lipids not degrad…
B-glucocerebrosidase deficiency, splenomegaly and bone pain.…
Gaucher's cell sin PM and lymphoid tissue, pancytopenia
Definition
Deficiency in one or more enzymes in a biochemical pathway de…
Pathogenesis
Deficiency, normal cell death, macrophages, lipids not degrad…
15 terms
Lysosomal Storage Diseases
Lysosomal Storage Diseases
Hurler's Syndrome (MPS I)
Hurler's Syndrome (MPS I): symptoms
Hurler's Syndrome (MPS I): Treatment
- autosomal recessive... - three types 1) mucopolysaccaridoses (…
- Autosomal recessive disorder - deficiency in alpha-L-Iduron…
- Deposition of degradation products in coronary artery - isc…
Treatments - stem cell transplantation in order to stabilise…
Lysosomal Storage Diseases
- autosomal recessive... - three types 1) mucopolysaccaridoses (…
Hurler's Syndrome (MPS I)
- Autosomal recessive disorder - deficiency in alpha-L-Iduron…
15 terms
Lysosomal Storage diseases
Fabray... (enzyme)
Fabray... (clinical features)
Gaucher... (enzyme)
Gaucher... (clinical features)
deficiency: α-galactosidase A... accumulates: Ceramide trihexos…
Adolescence:... Angiokeratomas & telangiectasias... Neuropathic pai…
deficiency: β-Glucocerebrosidase... accumulates: Glucocerebroside
Hepatosplenomegaly ... Pancytopenia... Bone pain crises / osteopeni…
Fabray... (enzyme)
deficiency: α-galactosidase A... accumulates: Ceramide trihexos…
Fabray... (clinical features)
Adolescence:... Angiokeratomas & telangiectasias... Neuropathic pai…
69 terms
Glycogen & Lysosomal Storage Diseases
TS
TS
TS
TS/Krabbe/Hurler/Hunter/NP
deficiency in hexosaminidase A... accumulation of GM2 gangliosi…
Mutation in Chromosome 15?
Progressive neurodegeneration... •Developmental delay... •Cherry-re…
Developmental delay?
TS
deficiency in hexosaminidase A... accumulation of GM2 gangliosi…
TS
Mutation in Chromosome 15?
8 terms
Lysosomal Storage Diseases
Fabry Disease
Gaucher disease
Niemann-Pick disease
Tay-Sachs Disease
Findings: Peripheral neuropathy, angiokeratomas, hydrohidrosi…
Findings: Hepatosplenomegaly, pancytopenia, osteoporosis, ase…
Findings: Progressive neurodegeneration, hepatosplenomegaly,…
Findings: Progressive neurodegeneration, developmental delays…
Fabry Disease
Findings: Peripheral neuropathy, angiokeratomas, hydrohidrosi…
Gaucher disease
Findings: Hepatosplenomegaly, pancytopenia, osteoporosis, ase…
12 terms
lysosomal storage diseases detailed
Fabry's disease
Tay-Sachs disease
Sandhoff disease
Niemann-Pick disease
Second step in globoside degradation... *Deficiency in alpha-gal…
Second step in ganglioside degradation... *Deficiency in hexosa…
First step in globoside degradation... *Deficiency in both hexo…
Deficiency in sphingomyelinase for N-P types A and B... B has…
Fabry's disease
Second step in globoside degradation... *Deficiency in alpha-gal…
Tay-Sachs disease
Second step in ganglioside degradation... *Deficiency in hexosa…
22 terms
Glycogen Storage Diseases
What are GSDs?
GSD1
Cori Cycle
Glucose-6-phosphatase (G6Pase)
Defects in glycogen metabolism including synthesis and breakd…
Type 1 glycogenosis (also known as von Gierke's disease- desc…
Discovered by Carl and Gerty Cori... Lactate produced by anaerob…
Catalyses terminal step in glycogenolysis and gluconeogenesis
What are GSDs?
Defects in glycogen metabolism including synthesis and breakd…
GSD1
Type 1 glycogenosis (also known as von Gierke's disease- desc…
9 terms
Lysosomal Storage Diseases
Peripheral neuropathy of hands and fee…
Hepatosplenomegaly, pancytopenia, oste…
Progressive neurodegeneration, hepatos…
Progressive neurodegeneration, develop…
Fabry disease... - a-galactosidase A... Accumulated product:... - cer…
Gaucher disease... - glucocerebrosidase (B-glucosidase)... Accumul…
Niemann Pick disease... - sphingomyelinase... Accumulated product:…
Tay-Sachs disease... - hexosaminidase A... Accumulated product:... -…
Peripheral neuropathy of hands and fee…
Fabry disease... - a-galactosidase A... Accumulated product:... - cer…
Hepatosplenomegaly, pancytopenia, oste…
Gaucher disease... - glucocerebrosidase (B-glucosidase)... Accumul…
8 terms
Biochem: Lysosomal Storage Diseases
Fabry Disease
Gaucher Disease
Niemann Pick Disease
Tay Sachs Disease
-Sphingolidoses... -Enzyme: alpha-galactosidase A... -*Accumula…
-Sphingolidoses... -Enzyme: glucocerebrosidase (beta-glucosi…
-Sphingolidoses... -Enzyme: sphingomyelinase... -*Accumulation:…
-Sphingolidoses... -Enzyme: hexosaminidase A... -*Accumulation:…
Fabry Disease
-Sphingolidoses... -Enzyme: alpha-galactosidase A... -*Accumula…
Gaucher Disease
-Sphingolidoses... -Enzyme: glucocerebrosidase (beta-glucosi…
8 terms
Lysosomal storage diseases
Fabry
gaucher
Neimann-Pick
Tay-sachs
alpha galactosidase A; ceramide trihexoside... peripheral neuro…
glucocerebrosidase; glucocerebroside... hepatosplenomegaly, pan…
sphingomyelinase; sphingomyelin... HEPATOSPLENOMEGALY, foam cel…
Hexosaminidase A; GM2 ganglioside... Progressive neurodegenerat…
Fabry
alpha galactosidase A; ceramide trihexoside... peripheral neuro…
gaucher
glucocerebrosidase; glucocerebroside... hepatosplenomegaly, pan…
12 terms
2d - Biochem: storage diseases
Von Gierke disease
Pompe disease
Cori disease
McArdle disease
Deficient enzyme: G-6-phosphatase ... Sx: severe fasting hypogl…
Deficient enzyme: Lysosomal a-1,4-glucosidase. Lysosome can't…
Deficient enzyme: debranching enzyme ... Sx: milder form of von…
Deficient enzyme: skeletal muscle glycogen phosphorylase ... Sx…
Von Gierke disease
Deficient enzyme: G-6-phosphatase ... Sx: severe fasting hypogl…
Pompe disease
Deficient enzyme: Lysosomal a-1,4-glucosidase. Lysosome can't…
37 terms
FA - Lysosomal storage diseases
Fabry disease inheritance
Fabry disease dieficienct enzyme
Fabry disease accumulated metabolite
Fabry disease signs and symptoms
XR
Alpha-galactosidase
Ceramide trihexoside
Angiokeratomas... Cardiac and renal involvement... Painful neuropathy
Fabry disease inheritance
XR
Fabry disease dieficienct enzyme
Alpha-galactosidase
47 terms
Lysosomal Storage Diseases
The early endosome, the late endosome…
Mannose-6-phosphate (M6P) group.
A defective phosphotransferase in the…
Reactive oxygen species.
What are the principal components of the endosomal-lysosomal…
What is the group that functions as a targeting signal for th…
What causes inclusion-cell (I-cell) disease?
What is the most common mediator of cell death in many lysoso…
The early endosome, the late endosome…
What are the principal components of the endosomal-lysosomal…
Mannose-6-phosphate (M6P) group.
What is the group that functions as a targeting signal for th…
31 terms
Lysosomal Storage Diseases
Fabry
a-galactosidase A
Ceramide trihexoside
Gaucher
Sphingolipidosis lysosomal storage disorder with peripheral n…
Enzyme that is deficient in Fabry disease.
Accumulated substrate in Fabry disease.
Sphingoliposis lysosomal storage disorder with hepatosplenome…
Fabry
Sphingolipidosis lysosomal storage disorder with peripheral n…
a-galactosidase A
Enzyme that is deficient in Fabry disease.
36 terms
FA - Lysosomal storage diseases
Fabry disease inheritance
Fabry disease dieficienct enzyme
Fabry disease accumulated metabolite
Fabry disease signs and symptoms
XR
Alpha-galactosidase
Ceramide trihexoside
Angiokeratomas... Cardiac and renal involvement... Painful neuropathy
Fabry disease inheritance
XR
Fabry disease dieficienct enzyme
Alpha-galactosidase
56 terms
Lysosomal & Glycogen Storage Diseases
Fabry Disease
Fabry Disease
Fabry Disease
Fabry Disease
X-linked recessive; deficiency of alpha-galactosidase A
Peripheral neuropathy of hands/feet, angiokeratomas, cardiova…
Accumulation of ceramide trihexoside results from the deficie…
Notable for cardiovascular and renal disease that is more lik…
Fabry Disease
X-linked recessive; deficiency of alpha-galactosidase A
Fabry Disease
Peripheral neuropathy of hands/feet, angiokeratomas, cardiova…
17 terms
Lysosomal Storage Diseases
Farber's
Krabbe
Niemann Picke
Gaucher's
Enzyme: ceramidase, Build-up: ceramide
Enzyme: beta-galactosidase, Build-up: ceramide-galactose
Enzyme: sphingomyelinase, Build-up: sphingomyelin
Enzyme: beta-glucosidase, Build-up: ceramide-glucose (mutatio…
Farber's
Enzyme: ceramidase, Build-up: ceramide
Krabbe
Enzyme: beta-galactosidase, Build-up: ceramide-galactose
9 terms
Lysosomal Storage Diseases
Lysosomal production overview
Sphingolipidoses... - Fabry's Dz
Sphingolipidoses... -Gaucher Dz
Sphingolipidoses... -Niemann- Pick Dz
Deficient Enzyme: Alpha-galactosidase A... Accumulated substrate…
MOST COMMON... Deficient Enzyme: Glucocerebrosidase (beta- gluco…
Deficient Enzyme: Sphingomyelinase... Accumulated Substrate: Sph…
Lysosomal production overview
Sphingolipidoses... - Fabry's Dz
Deficient Enzyme: Alpha-galactosidase A... Accumulated substrate…
36 terms
FA - Lysosomal storage diseases
Fabry disease inheritance
Fabry disease dieficienct enzyme
Fabry disease accumulated metabolite
Fabry disease signs and symptoms
XR
Alpha-galactosidase
Ceramide trihexoside
Angiokeratomas... Cardiac and renal involvement... Painful neuropathy
Fabry disease inheritance
XR
Fabry disease dieficienct enzyme
Alpha-galactosidase
20 terms
Lysosomal Storage Diseases
Lysosomal Storage Diseases
Sphingolipidoses
Sphingolipidoses
Gaucher Disease
Diseases focused on defects in enzymes typically found in lys…
Lipid storage disaes relating to sphingolipid metabolism... All…
Gangliosides... - Tay-Sachs... - Sandhoff... Glycolipids... - Fabry's... -…
Most Common... Deficient enzyme:... β-glucosidase* (gluco-cerebro…
Lysosomal Storage Diseases
Diseases focused on defects in enzymes typically found in lys…
Sphingolipidoses
Lipid storage disaes relating to sphingolipid metabolism... All…
9 terms
Glycogen Storage Diseases
Type 0
Type I
Type II
Type III
Lack of liver glycogen synthase... Fasting hypoglycemia... Liver h…
Lack of glucose-6-phosphatase... von Gierke disease... Enlargement…
Lack of lysosomal a-glucosidase... Pope disease... Death within 2…
Lack of debranching enzyme... Fasting hypoglycemia... Hepatomegaly…
Type 0
Lack of liver glycogen synthase... Fasting hypoglycemia... Liver h…
Type I
Lack of glucose-6-phosphatase... von Gierke disease... Enlargement…
24 terms
Glycogen Storage Diseases + Lysosomal Storage Diseases
Von Gierke Disease
Von Gierke Disease
Pompe Disease
Pompe Disease
Deficient Enzyme: Glucose-6-Phosphatase
Findings: Severe fasting hypoglycemia, increased glycogen in…
Deficient Enzyme: Lysosomal Alpha-1,4-Glucosidase (Acid Malta…
Findings: CARDIOMYOPATHY, HSM, muscle weakness, lack of hypog…
Von Gierke Disease
Deficient Enzyme: Glucose-6-Phosphatase
Von Gierke Disease
Findings: Severe fasting hypoglycemia, increased glycogen in…
1 of 10