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Pathobiochemistry > heritable enzyme deficiencies of the carbohydrate metabolism > Flashcards

heritable enzyme deficiencies of the carbohydrate metabolism Flashcards

1
Q

how is the heritable enzyme deficiency usually inherited?

A

it is usually autosomal resessive and related to the X chromosome

usually homozygous recessive

passed on by heterogenous carriers

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2
Q

diagnosis of heritable enzyme deficiencies?

A
  1. diagnosis of certain reaction specific metabolites in the blood and urine
  2. measurement of enzyme activity (ELISA etc.)
  3. DNA testing - special test kits are available for frequent diseases
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3
Q

therapy for heritable enzyme deficiencies?

A
  • no specific casual therapy for most of the diseases - only symptomatic therapy
  • searching for carriers and excluding from breeding is the real solution
  • Genetic therapy -
  • Bone marrow transplantation - highly unsuccesful
  • Enzyme replacement -systematic replacement of enzymes
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4
Q

Biochemical role of pyruvate kinase?

A
  • one of the enzymes of glycolysis
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5
Q

the 4 subunits of isoenzymes?

A
  1. PK - M1 - striated and heart muscle
  2. PK - M2 - mostly Fetal tissues
  3. PK - L - Liver
  4. PK - R - RBCs
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6
Q

what happens if the genes of L and R isoenzymes are damaged?

A

metabolic disorder in the liver and RBCs

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7
Q

most common breeds to have a lack of pyruvate kinase enzyme?

A

Dogs:

  • Westie
  • Beagle
  • Chiuahua

Cats:

  • Abessinian
  • Somali
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8
Q

consequences of lack of PK in the liver?

A
  • Glycogen accumulation
  • Hepatomegaly
  • Decreased ATP production
  • intensive B oxidation
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9
Q

consequences of lack of PK in RBCs?

A
  • Lack of ATP - cell heavily damaged
  • membrane not protected from free radicals - membrane is fragile - haemolysis - haemolytic anaemia
  • irregular shaped cells - Burr cells
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10
Q

what can cause the formation of Burr cells?

A

lack of PK

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11
Q

symptoms for the lack of PK?

A
  • Haemolytic anaemia
  • Pale mucosal membranes
  • Jaundice
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12
Q

therapy for PK deficiency?

A
  • Symptomatic therapy - Splenectomy, transfucion etc.
  • not always unfavorable prognosis - patients can live for years with proper treatment
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13
Q

what is Gierke - disease?

A

lacking the enzyme: glucose - 6 - phosphatase

(liver and kidneys)

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14
Q

consequences of the lack of glucose -6- phosphatase?

A
  1. accumulation of glucose -6- phosphate = allosteric activation of glycogen synthase = glycogen accumulation
  2. Inhibition of blood glucose production - Hypoglycaemia
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15
Q

symptoms of Gierke - disease?

A
  • notably enlarged liver
  • skeletal and heart muscle: degeration due to glycogen storage
  • strong hypoglycaemic spasms in the case of starvation or intensive load
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16
Q

Gierke - disease therapy?

A
  • symptomatic treatment
  1. Glucose I.V.
  2. Special diet - energy deficiency
  • unfavourable prognosis in each
17
Q

what is Pompe - disease?

A

lacking of enzyme

Lysosomal exo - amylo - 1.4 - glucosidase

glycogen accumulation and energy deficiency = muscle weaknes

18
Q

symptoms of Pompe - disease?

A
  • cardiomegaly form - large amount of glycogen accumulated in the heart muscle = fast death
  • Neuromuscular form: glycogen accumulation in the brain - CNS symptoms
19
Q

treatment for pompe - disease?

A

no known treatment

poor prognosis

20
Q

what is Cori - forbes disease?

A

lacking of enzyme

amylo - 1.6 - glucosidase (debranching enzyme)

splitting the branches of glycogen during glycogenolysis

21
Q

Cori forbes disease occurence?

A
  • in akita and german shepherd breeds
22
Q

pathogenesis and symptoms of cori - forbes disease?

A
  • Muscle disease - weakness - 2 month old dog
  • Hepatomegaly
  • Hypoglycaemia - in case of starvation
  • life span is not reduced significantly
23
Q

types of cori forbes disease?

A
  1. Type I: enzyme deficiency in the liver and the muscles as well
  2. Type II: enzyme deficiency only in the liver
24
Q

cori - forbes therapy?

A

symptomatic therapy - Glucose IV., hepatic protection

Prognosis: not definatley unfavourable

25
Q

what is Andersen Disease?

A

lacking the enzyme:

Transglucosidase

26
Q

where was Andersen disease first described?

A

in Norwegian forest cat

27
Q

pathogenesis of Andersen disease?

A

formation of abnormal shaped, branchless, straight chained glycogen in the tissues

the immune system recognises it as foregin body material and attacks the storage tissues (liver, muscles and kidneys)

28
Q

symptoms and therapy of andersen - disease?

A
  1. consequences of glycogen accumulation
  • severe degradation in CNC and PNS, muscles, liver and heart
  • Hepato and splenomegaly
  1. muscles - tremors , muscle atrophy, shrinking muscles

No specific treatment

29
Q

properties of Tarui - disease?

A

Lacking of enzyme

Phosphofructokinase I

regulator of glycolysis

30
Q

Tarui - disease occurence?

A

first described in english springer spaniels

8 months of age

cocker spaniels incidence of recessive allele is 10%

31
Q

Diagnosis of Tarui - disease?

A

non invasive DNA test kits

32
Q

tarui disease pathogenesis?

A
  1. Blocked glycolysis
  2. Glycogen accumulation ​
33
Q

symptoms and therapy of tarui disease?

A
  • RBC haemolysis - Haemolytic anaemia
  • Muscle weakness, pain, and rigidity of muscles
  • Hepatomegaly

Only symptomatic therapy

34
Q

What is progressive retina atrophy?

A

lacking (damaged) enzyme

Phosphodiesterase type 6

enzyme responsible for central role in enabling light detection

35
Q

where is progressive retina atrophy most common?

A

welsh corgies

36
Q

symptoms of progressive retina atrophy?

A
  • visual disturbances - worsen with time
  • irreversible damage - ending with complete blindness
37
Q

diagnosis of progressive retina atrophy?

A
  • Fundus scopy
  • Electroretinography
  • Special DNA test
  • Testing labradors is obligatory in Hungary
38
Q

treatment of progressive retina atropy?

A

no effective treatment

potential for antioxidant treatment in the future!

39
Q
A

Pathobiochemistry (5 decks)

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