מחלות מטבוליות

Question 1

What the different in High amonia / low amonia + AG normal

Answer 1

High amonia- urea cycle problem
low amonia- def. in amino acid metabolism

Question 2

Normal amonia + normal AG meytabolic disorders

Answer 2

1. PKU
2. Tyrosinemia
3. homocystenurea
4. maple syrup

Question 3

most common disorder in Urea cycle

what inheritance?
clinical menefecstation

Answer 3

Ornithine transcarbamylase def.- Xlinked = affect more boys

Clinical menefistation:
hyperamonimeia - in newborn boys
in girls- episodes of high amonia - vomiting and CNS involvemtn (ataxia, confusion, agitation ) mainly after consuming large amount of proteins / stress like inf.

Question 4

which AA will be high in ornithine transcarbamylase def.?

Answer 4

High glutamine and alanine and orotic acid in blood and urine

Question 5

What will be eleveted in Homocystenurea

Answer 5

methionine + homocysteine

Question 6

Whats the syndrome:

short sature, macrochepaly, flat face, porminant forhead and short hands

father also has

what is the complications

Answer 6

Achondroplasia

complications:
Hydrochepalus
central apasia
pressure in brainstem

they have normal lifestyle and intelligence.

**Dgx- ** clinical findings and X-ray

Question 7

Ehaler donler syndrome need to see 2 things

Answer 7

Hypernobility / elestisicty +
easy bruising

Question 8

Which disease is X-lined dominant when the boys are not survive?

Answer 8

RETT

Question 9

Which enzyme is def. in PKU?

Answer 9

phenylalanine hydroxylase

Question 10

Which AA is become essential in PKU?

Answer 10

Tyrosine

beacuse phenylalanine cannot be converted to tyrosine

Question 11

Which enzyme def. a/w rare form of PKU?

Answer 11

Dihydropteridine reductase (DHPR)
no BH2 convert to BH4

except of PKU also Tryptophan and tyrosine hydroxylase def.&raquo_space; low cathecolamines + seratonin

Question 12

Alkaptonuria is a def in which enzyme?

what is the clinical presentation?

Answer 12

Homogentisate oxidase def.

clinical presentation - due to accumulation of homogentisic acid
bleck urine
blue-black deposition on cartilage + connetive tissue: eye, ears, nose, hands , degenerative arthritis

converstion of Homogentisic acid to maleylacetoacetic acid

avoid in diet from tyrosine and phenylalanine

Question 13

Which AA is restricted in Alkaptonuria?

Answer 13

Tyrosine + phenylalanine

Question 14

What are the branced chain AA and which enzyme is catabolized them?

which disease is a/w that enzyme?

Answer 14

AA:
leucine
isoleucine
valine

enzyme- BCKDC = Brachned chain ketoacid dehydrogenase complex

maple syrup disease

Question 15

What is the clinical presentaiton of maple syrup:

Answer 15

1. maple syrup / sugar smelling urine
2. branched chain keto-acid in urine and blood
3. on first days- vomiting, feeding problems, irritability, lethargy
4. complications: sezures, cerebral edema, dystonia, psychomotor delay and Intellectual disability

Question 16

Tx for Maple syrup disease

Answer 16

Strict diet from isoleucine , leucine and valine + given on Thiamine (B1) (for maple syrup thiamine responsive disease)

Question 17

What are the 2 types of AR diseases of Organic acidemia

Answer 17

1. Propionic acidemia- de. in propionyl-CoA caboxylase
2. Methlmalonic acidemia- def. in Mathylmalonic coA mutase

Question 18

Which tx is commonly use for both proponic acidemia and methylmalonic acidemia

Answer 18

L-carnitine

helps in excretion of accumulated toxic acetyl-CoA metabolites.

Question 19

Homocystenuria can be cause by def. in which 3 enzymes?

Answer 19

1. MTHFR
2. methionine synthetase
3. Cysthionine beta shyntetase

Question 20

Which enzyme def. is mosty common a/w homocystenurea?

Answer 20

Cysthionine beta shyntase

nrrd B6, B9, B12 suppl.
low methaionine high cysteine diet

Question 21

Tyrosinemia type 1

what labratory finding will be positive in urine?
complications?
clinical menefsistation?

Answer 21

• positive in urine- Succinylacetone
• Clinical pst- normal in birth. on 2-6 moth&raquo_space; FTT, irritability, liver failure, bleeding , kidney failure, peripharal neuropathy
• Complications- HCC, ESRD

Dumarylacetoacetaste hydrolase def.

Question 22

Tx for tyrosinemia type 1?

Answer 22

• low tyrosine and phenylalanine diet
• Nitisonone- inhibit production of toxic metabolites
• liver transplant

Question 23

Treatment in maple syrup during episode?

and definite tx?

Answer 23

liver tranplant- allow’s healing

during acute episode- hydration and dialysis (to clear toxic AA (BCAA) from blood)

isoleucine, valine, leucine

Question 24

Which metabolic disorder is a/w sweating feets and few months after birth with neurologic decline and marcocehaplus?

Answer 24

Gkutaruc aciduria type 1

Question 25

Classic Galactosemia enzyme clinical presentation Tx

Answer 25

Galactose -1- phosphate uridyltrsnaferase (GALT) **clinical pst** Poor feeding, vomiting, FTT, **jaundice + hepatosplenomegaly**, easy brusing Bi-lateral cataracts = accumulation of Galactitol **E.coli spesis**

Question 26

Metachromatic leukodydyropy which enzyme def? presentation?

Answer 26

Arylsulfatasa A def = accumulation of cerebroside sulfate **clinical** ataxia seizures peripharal neuropathy hypotonia dementia

Question 27

Which sphingolipidosis a/w high risk for parkinson

Answer 27

Gucher disease

Question 28

Gucher disease Def of which enzyme and presentation

Answer 28

Def. of Glcocerebrosidase >> accumulation of glucocerebroside **clinical** Hepatopslenomegaly, pancytopenia, osteoporosis, a-vascular necrosis of femural head, bone crises

Question 29

Which histologic finding is pathognemonic for krabbe disease?

Answer 29

Formation of globoid cells

Question 30

Which disease is a/w def. in Alpha-galactosidase A?

Answer 30

Fabry | accumulaiton of Ceramide trihexoside ## Footnote X-linked res.

Question 31

most common Glycogen storage disease? which enzyme is def.?

Answer 31

Von gierke (type I) Glucose 6 phosphatase

Question 32

which GSD is a/w Heptomegaly Renomeglay lactic acidosis hyperttriglyceridemia and uric acid with tendon xanthomas

Answer 32

Von gireke disease

Question 33

Which GSD a/w def in lysosomal acid alpha 1-4 glucosidase

Answer 33

pompe disease

Question 34

Which organs are involve in pompe disease?

Answer 34

Cardiomegaly hepatomegaly macroglossia and hypotonia a/w myopathy >> respiratory failure ## Footnote eleveted CK . normal glucose in blood

Question 35

# lo Which GSD disease a/w myoglobinuria and muscle cramps during exrecise?

Answer 35

McArdle disease (V) | muscle glycogen phosphorylase

Question 36

which GSD is a/w second wind phenomenon?

Answer 36

McArdle disease second wind- recovery after short resting

Question 37

What is the hallmark of pompe disease that not typically observed in von gireke disease?

Answer 37

Cardiomegaly

Question 38

Which enzyme is def. in Krabbe disease

Answer 38

Galactocerbrosidase