Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Biochemistry > Lipodeses and Lysosomal Storage Diseases > Flashcards

Lipodeses and Lysosomal Storage Diseases Flashcards

1
Q

AR

Deficiency of B galactosidase leading to accumulation of this lipid in CNS

A

GM1 gangliosides

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Deficient enzyme in GM1 gangliosidoses

A

B-galactosidase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Diseases with cherry red macula

A

Tay Sachs
GM1 gangliosidoses
Neymann Pick’s disease
Sandhoff disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q 
Hepatosplenomegaly
Hemolysis
Inclusions in WBCs
Rashes 
Edema

Blind, deaf by 1 year of age

Die of heart failure or neurological defect with death in 3 years

GM1 ganglioside deposition in neurons leading to

A

GM1 Gangliosidoses Beta galactosidase

psychomotor retardation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Deficiency of alpha subunit of hexosaminidase A

Accumulation of GM2 ganglioside in brain

Ashkenazi Jew

No organomegaly

A

Tay Sachs Disease GM2 gangliosidase

Alpha hexosaminidase A deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Inc level of GM2 gangliosides in the brain and PERIPHERAL ORGANS

Defect of beta subunit of hexosaminidase A and B

A

Sandhoff disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Six subtypes

Sphingomyelin deficiency

A

Neimann-Pick disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Gene erroneous in Neimann-Pick Sphingomyelinase deficiency

A

SMPD1 gene Neiman-Pick type A and B

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Most common of the lipid storage disorder

A

Gaucher disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Autosomal recessive

Deficiency of beta glucosidase (glucocerebrosidase)

A

Gaucher beta glucosidase deficency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Beta glucosidase acts on

A

Fatty acid glucosylceramide accumulating in WBCs (mac)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Mononuclear leukocytosis

A

Gaucher’s beta glucosidase deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

X linked Recessive

Ceramide trihexosidase, globotriasylceramide or alpha galactosidase A deficiency

A

Fabry disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Autosomal Recessive

Deficiency of galactosylceramide B galactosidase or galactocerebrosidase deficiency

on gene GALC ch14(14q31)

A

Krabbe disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Autosomal recessive

Ceramidase deficiency

Inc of ceramide in peripheral organs, joints and lymphoid tissue

A

Farber disease
Farber’s lipogranulomatosis
Fibrocytic dysmucopolysaccharidosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Acid can form

A

Gamma aminobutyric acid GABA shutting patient’s brain and breathing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Lactic acidosis -> GABA connection

Stroke like episode
Causes generalized tonic-clonic seizures often associated with hemiparesis and cortical blindness
Recurrent headache and vomiting (GABA)
Lesds to progressive neuro abnormality, coma and death

MRI show multiple strokes not in a vascular pattern

Inc lactic acidosis in blood and urine

Muscle biopsy: diagnostic ragged red fibers

A

MELAS

Mitochondrial encephalopathy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Rare neurometabolic disorder affecting CNS
Crucial cells in brain stem and basal gang are effected with mutations in mitochondrial DNA

Cells have no energy and inhibits motor function

Movement disorder

Episodes of lactic acidosis

No tx or high carb diet

A

Leigh Subacute Necrotizing Encephalomyelopathy (SNEM)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Inherited deficiency of lysosomal enzyme for degradation of glycosaminoglycan (GAGs) resulting in widespread lysosomal storage of dermatan and heparan sulfate

A

Mucopolysaccharidoses

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Gargoyle cells containing lysosomes engorged with mucopolysaccharide

Excessive urinary excretion of glycosaminoglycan, coarse features and stiff joint

Detection of enzyme deficiency in leukocyte or cultures fibroblast needed for diagnosis

A

Mucopolysaccharidoses

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

AR
Milder form of Hurler
Normal intelligence and life span

Corneal clouding, stiff joint, aortic regurgitation (early diastolic decrescendo murmur) and wide pulse pressure because of decreased diastolic pressure (bounding pulses in radial artery)

A

Scheie syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Deficiency of alpha-L-iduronidase

Severe and progressive with clinical onset of 1 year of age and death by 10 years of age

MR, Heart disease, corneal clouding, organomegaly and coarse facies

Obstructive airway disease/Dystosis multiplex

Enlarged tongue, hearing loss, limited language

A

Hurler syndrome

Mucopolysaccharidosis Type I

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

X linked Recessive
Deficiency of iduronate 2 sulfatase

Clear cornea but associated with retinitis and papilledema

Dystosis multiplex, mental retardation, organomegaly and coarse facies

A

Hunter Syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

AR
Early in neonatal period with progressive encephalopathy
Death secondary to hyperammonia level (GABA), infection and cardiomyopathy or basal ganglia stroke

A

Proprionic acidemia
Proprionyl coa carboxylase deficiency
Ketotic glycinemia

Converts proprionyl coa to methylmalonyl coa (prop coa carboxylase) in krebs

conversion of AA to sugar

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Body cannot breakdown lysine, hydroxylysine and tryptophan

Excessive level of intermediate breakdown products accumulate and damage brain (basal ganglia) hence problem with movement regulation

Causes CARNITINE DEFICIENCY bec glutaric acid is detoxified by carnitine

MR can also occur

A

Glutaric Acidemia Type I

26
Q

AR
Presents with progressive encephalopathy and secondary hyperammonemia

Defect in metabolic pathway where methylmalonyl-coenzyme A (CoA) is converted into succinycl Coa by methylmalonyl coA mutase

Required B12

A

Methylmalonic acidemia

27
Q

Biotin is needed in coversion of

A

Proprionyl CoA (3 Carbon) to Methylmalonyl CoA (4 Carbon) via Proprionyl CoA carboxylase (biotin)

28
Q

Methylmalonyl CoA (4Carbon) is convered to Succinyl Coa via

A

Methylmalonyl CoA mutase and VitB12

29
Q

mutation in HMGCL gene

Plays essential role in break down of dietary proteins and fats for energy

Rare disorder

Body cannot properly process the AA leucine

Body cannot make ketones -> no energy for fasting states

Vomiting, dehydration, lethargy, convulsion, coma and metabolic acidosis

Condition is mistaken for Reye syndrome

CNS impairment

A

3 hydroxy 3methylglutaryl coa lyase deficiency
HMG COA lyase deficiency
Hydroxymethylglutaric aciduria

30
Q

AR
Metabolic disorder which disrupts or prevents normal metabolism of branched chain AA leucine

Deficiency of Isovaleric acid CoA dehydrogenase

SWEATY FEAT
odor causes by build up of isovaleric acid

Half become apparent within few days after birth and other half during childhood

Poor feeding, vomiting, seizure lack of energy leading to coma

A

Isovaleric acidemia

31
Q

Inc isovalerylglycine in urine

Inc isovalerylcarnitine in plasma

A

Isovaleric acidemia

32
Q

Inherited disorder of AA metabolism in which phenylalanine cannot be converted to tyrosine
Deficiency of phenylalanine hydroxylase

Screened for all newborns

Patients are normal at birth but develop severe MR if not treated

Hypopigmentation
Eczema
Mousy/musty odor and hypotonia

Tx: limit dietary phenylalanine and inc dietary tyrosine

Strict dietary restriction during pregnancy
Stay away from artifical sweetener (aspartame)

A

Phenylketonuria

33
Q

Phenylalanine metabolism

A

Phenylalanine -> Tyrosine -> L Dopa -> NE -> Epi

34
Q

X linked Recessive
Purine deposition in tissue

Deficiency of Hypoxanthine-guanine phosphoribosyl transferase HGPRT

Delayed motor development
Choreoathetosis (1 yr)
Spastic CP
SELF INJURIOUS BEHAVIOR 
Hyperuricemia (tophi, neuropathy, urinary tract caliculi)

Tx: allopurinol

Death in 2nd or 3rd decade

A

Lesch Nyhan Syndrome

35
Q

Deficiency of fumarlacetoacetate

Severe disease of liver, kidney and peripheral nerves
organ damage from accumulation of metabolite of tyrosine degradation (succinylacetone)

A

Fumarylacetoacetate hydrolase FAH

Tyrosinemia

36
Q

AR
FAH gene to ch15q
Susceptible French Canadian from Saguenay-Lac Saint Jean region of Quebec

Untreated, affected appears normal at birth and typically presents between 2 and 6 months of age

Acute hepatic crisis

Odor: BOILED CABBAGE due to inc methionine metabolite

A

Tyrosinemi Type I

37
Q

Acute Hepatic crisis with catabolic state
Episodes of acute peripheral neuropathy (40%) resembling acute porphyria
Renal involvement as Fanconi-like syndrome with normal anion gap metab acidosis, hyperphosphaturia, hypophosphatemia, vit D resistant ricket

Increased levels of succinylacetone in urine is diagnostic

Tx: low phenylalanine and tyrosine diet but does not slow progression

Liver transplant alleviates HCC risk

A

Tyrosinemia Type I

38
Q

Drug of choice for tyrosinemia

A

Nitisinone

inhibits tyrosine degradation at 4-HPPD

39
Q

Catabolism of AA -> production of free ammonia (GABA)

In mammals, ammonia is detox to urea water soluble via urea cycle

Urea cycle never shuts off

A

Urea cycle deficiency

40
Q

5 enzymes involved in synthesis of urea

A 
Carbamyl phosphate synthetase
Ornithine transcarbamylase
Argininosuccinate synthetase
Argininosuccinate lyase
Arginase
41
Q

Most common genetic cause of hyperammonemia

A

Urea cycle deficiency

42
Q

AR
2 arginase in humans:
A1 cytosolic expressed in liver and RBC
A2 mitochondrial, expressed in renal and brain

Inc arginine in plasma and CSF
Inc urinary orotic acid

Diagnosis confirmed by assaying arginase activity in RBC

Tx: low protein diet devoid of arginine and administration of AA synthetic protein resulting in dec arginine and improved neurologic abnormality

A

Arginase deficiency

43
Q

Hyperammonemia
Moderate elevation in LFT
Nonspecific increase in plasma level of glutamine and alanine
Moderate increase in plasma levels of citrulline (less in citrullinemia) and marked increase in plasma levels of arginosuccinic acid
Dec in arginine

Trichorrhexis nodosa (hair ab)

A

Argininiosuccinic acidemia

44
Q

90% of urea cycle takes place in

A

liver

45
Q

Death by 3-5 years of age

Hyperacusis/exaggerated startle response

Cherry red macula but clear cornea

Frog like position

Hepatosplenomegaly, normal WBC

A

Sandhoff GM2 gangliosidase beta hexosaminidase A and B deficiency

46
Q

Inc of sphingomyelin and cholesterol in reticuloendothelial and parenchymal cells, CNS (ataxia, dysarthria, BG dysfunction causing abnormal posturing eg dystonia)

Widespread: cerebral cortex and subcortical structure leading to dementia and seizure

Some have red macula but all have clear cornea, hepatosplenomegaly (thrombocytopenia), bleeding in skin and mucosa

Dx by 4 months death by 3 years

A

Neimann-Pick sphingomyelinase deficiency

47
Q

Seen in bone marrow aspirates of Neimann-Pick Sphingomyelinase deficiency

A

Foam cells

48
Q

Splenomegaly in Neiman-Pick sphingomyelinase cause

A

Bleeding in skin and mucosal surfaces

Thrombocytopenia

49
Q

Inc levels of glucocerebroside in RES

Bone fracture, bone pain and avascular necrosis

Accumulation of glucoceramide in lungs, bone marrow hence pancytopenia

A

Gaucher beta glucosidase deficiency

50
Q

Gaucher cell in bone marrow have

May also present with bruising, fatigue, anemia, thrombocytopenia, hepatosplenomegaly

A

crinkled paper in cytoplasm

Gaucher beta glucosidase deficiency

51
Q

Beta glucosidase of Gaucher acts on

A

Fatty acid glucosyl ceramide

52
Q

Glucoceramide of Gaucher beta glucosidase deficiency accumulates in these types of cells

A

White blood cells

Macrophages

53
Q

Treatment for Gaucher Beta glucosidase deficiency

A

Enzyme replacement

54
Q

Inc glycosphingolipid in vascular endothelium, nerves, and organs

Fatty compounds start to line blood vessels

Inc risk of STROKE, heart attack and kidney damage in the YOUNG

A

Fabry ceramide trihexosidase alpha galactosidase A deficiency

55
Q

Angiokeratoma and telangiectasia

Severe neuropathic limb pain

Asymmetric corneal deposition (corneal clouding)

Progressive renal failure, Hepatomegaly
Cardiac involvement

A

Fabry ceramide trihexosidase alpha galactosidase A deficiency

56
Q

Lack of active saposin A

Build up of glycosphingolypids called psychosine

Inc of ceramide galactose within lysosomes of brain white matter

A

Krabbe galactosylceramide beta galactosidase deficiency

57
Q

Clear cornea

Progressive CNS degeneration within first 6 months of life

Optic atrophy, spasticity, early death and clear cornea

A

Krabbe galactosylceramide B galactosidase deficiency

58
Q

Krabbe galactosylceramide beta galactosidase deficiency shows these cells in areas of demyelination

A

Globoid cells

59
Q

Build up of this glycosphingolypid in Krabbe galactosylceramide B galactosidase deficiency causes axonal degeneration in CNS and PNS by disrupting lipid rafts

A

Psychosine

60
Q

Normal at birth
Clinical onset at 4 months

Nodules on joints and vocal cords (hoarseness) - swollen lymph nodes

Xanthoma

Severe MR and motor retardation

Death by 2 years of age

A

Farber ceramidase deficiency
Farber’s lipogranulomatosis
Fibrocytic dysleukopolysaccharidoses

61
Q

50% have cherry red macula but clear cornea

A

GM1 gangliosidoses B galactosidase deficiency

Biochemistry (32 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions