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מבחן גמר בילדים > מחלות מטבוליות > Flashcards

מחלות מטבוליות Flashcards

1
Q

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

A

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

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2
Q

Normal amonia + normal AG meytabolic disorders

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

most common disorder in Urea cycle

what inheritance?
clinical menefecstation

A

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.

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4
Q

which AA will be high in ornithine transcarbamylase def.?

A

High glutamine and alanine and orotic acid in blood and urine

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5
Q

What will be eleveted in Homocystenurea

A

methionine + homocysteine

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6
Q

Whats the syndrome:

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

father also has

what is the complications

A

Achondroplasia

complications:
Hydrochepalus
central apasia
pressure in brainstem

they have normal lifestyle and intelligence.

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

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7
Q

Ehaler donler syndrome need to see 2 things

A

Hypernobility / elestisicty +
easy bruising

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8
Q

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

A

RETT

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9
Q

Which enzyme is def. in PKU?

A

phenylalanine hydroxylase

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10
Q

Which AA is become essential in PKU?

A

Tyrosine

beacuse phenylalanine cannot be converted to tyrosine

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11
Q

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

A

Dihydropteridine reductase (DHPR)
no BH2 convert to BH4

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

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12
Q

Alkaptonuria is a def in which enzyme?

what is the clinical presentation?

A

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

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13
Q

Which AA is restricted in Alkaptonuria?

A

Tyrosine + phenylalanine

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14
Q

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

which disease is a/w that enzyme?

A

AA:
leucine
isoleucine
valine

enzyme- BCKDC = Brachned chain ketoacid dehydrogenase complex

maple syrup disease

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15
Q

What is the clinical presentaiton of maple syrup:

A
  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
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16
Q

Tx for Maple syrup disease

A

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

17
Q

What are the 2 types of AR diseases of Organic acidemia

A
  1. Propionic acidemia- de. in propionyl-CoA caboxylase
  2. Methlmalonic acidemia- def. in Mathylmalonic coA mutase
18
Q

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

A

L-carnitine

helps in excretion of accumulated toxic acetyl-CoA metabolites.

19
Q

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

A
  1. MTHFR
  2. methionine synthetase
  3. Cysthionine beta shyntetase
20
Q

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

A

Cysthionine beta shyntase

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

21
Q

Tyrosinemia type 1

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

A
  • 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.

22
Q

Tx for tyrosinemia type 1?

A
  • low tyrosine and phenylalanine diet
  • Nitisonone- inhibit production of toxic metabolites
  • liver transplant
23
Q

Treatment in maple syrup during episode?

and definite tx?

A

liver tranplant- allow’s healing

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

isoleucine, valine, leucine

24
Q

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

A

Gkutaruc aciduria type 1

25
Q

Classic Galactosemia

enzyme
clinical presentation
Tx

A

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

26
Q

Metachromatic leukodydyropy

which enzyme def?
presentation?

A

Arylsulfatasa A def = accumulation of cerebroside sulfate

clinical
ataxia
seizures
peripharal neuropathy
hypotonia
dementia

27
Q

Which sphingolipidosis a/w high risk for parkinson

A

Gucher disease

28
Q

Gucher disease
Def of which enzyme
and presentation

A

Def. of Glcocerebrosidase&raquo_space; accumulation of glucocerebroside

clinical
Hepatopslenomegaly, pancytopenia, osteoporosis, a-vascular necrosis of femural head, bone crises

29
Q

Which histologic finding is pathognemonic for krabbe disease?

A

Formation of globoid cells

30
Q

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

A

Fabry

accumulaiton of Ceramide trihexoside

X-linked res.

31
Q

most common Glycogen storage disease?

which enzyme is def.?

A

Von gierke (type I)
Glucose 6 phosphatase

32
Q

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

A

Von gireke disease

33
Q

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

A

pompe disease

34
Q

Which organs are involve in pompe disease?

A

Cardiomegaly
hepatomegaly
macroglossia
and hypotonia
a/w myopathy&raquo_space; respiratory failure

eleveted CK . normal glucose in blood

35
Q

lo

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

A

McArdle disease (V)

muscle glycogen phosphorylase

36
Q

which GSD is a/w second wind phenomenon?

A

McArdle disease

second wind- recovery after short resting

37
Q

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

A

Cardiomegaly

38
Q

Which enzyme is def. in Krabbe disease

A

Galactocerbrosidase

39
Q
A

מבחן גמר בילדים (23 decks)

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