מחלות מטבוליות Flashcards
What the different in High amonia / low amonia + AG normal
High amonia- urea cycle problem
low amonia- def. in amino acid metabolism
Normal amonia + normal AG meytabolic disorders
- PKU
- Tyrosinemia
- homocystenurea
- maple syrup
most common disorder in Urea cycle
what inheritance?
clinical menefecstation
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.
which AA will be high in ornithine transcarbamylase def.?
High glutamine and alanine and orotic acid in blood and urine
What will be eleveted in Homocystenurea
methionine + homocysteine
Whats the syndrome:
short sature, macrochepaly, flat face, porminant forhead and short hands
father also has
what is the complications
Achondroplasia
complications:
Hydrochepalus
central apasia
pressure in brainstem
they have normal lifestyle and intelligence.
**Dgx- ** clinical findings and X-ray
Ehaler donler syndrome need to see 2 things
Hypernobility / elestisicty +
easy bruising
Which disease is X-lined dominant when the boys are not survive?
RETT
Which enzyme is def. in PKU?
phenylalanine hydroxylase
Which AA is become essential in PKU?
Tyrosine
beacuse phenylalanine cannot be converted to tyrosine
Which enzyme def. a/w rare form of PKU?
Dihydropteridine reductase (DHPR)
no BH2 convert to BH4
except of PKU also Tryptophan and tyrosine hydroxylase def.»_space; low cathecolamines + seratonin
Alkaptonuria is a def in which enzyme?
what is the clinical presentation?
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
Which AA is restricted in Alkaptonuria?
Tyrosine + phenylalanine
What are the branced chain AA and which enzyme is catabolized them?
which disease is a/w that enzyme?
AA:
leucine
isoleucine
valine
enzyme- BCKDC = Brachned chain ketoacid dehydrogenase complex
maple syrup disease
What is the clinical presentaiton of maple syrup:
- maple syrup / sugar smelling urine
- branched chain keto-acid in urine and blood
- on first days- vomiting, feeding problems, irritability, lethargy
- complications: sezures, cerebral edema, dystonia, psychomotor delay and Intellectual disability
Tx for Maple syrup disease
Strict diet from isoleucine , leucine and valine + given on Thiamine (B1) (for maple syrup thiamine responsive disease)
What are the 2 types of AR diseases of Organic acidemia
- Propionic acidemia- de. in propionyl-CoA caboxylase
- Methlmalonic acidemia- def. in Mathylmalonic coA mutase
Which tx is commonly use for both proponic acidemia and methylmalonic acidemia
L-carnitine
helps in excretion of accumulated toxic acetyl-CoA metabolites.
Homocystenuria can be cause by def. in which 3 enzymes?
- MTHFR
- methionine synthetase
- Cysthionine beta shyntetase
Which enzyme def. is mosty common a/w homocystenurea?
Cysthionine beta shyntase
nrrd B6, B9, B12 suppl.
low methaionine high cysteine diet
Tyrosinemia type 1
what labratory finding will be positive in urine?
complications?
clinical menefsistation?
- positive in urine- Succinylacetone
- Clinical pst- normal in birth. on 2-6 moth»_space; FTT, irritability, liver failure, bleeding , kidney failure, peripharal neuropathy
- Complications- HCC, ESRD
Dumarylacetoacetaste hydrolase def.
Tx for tyrosinemia type 1?
- low tyrosine and phenylalanine diet
- Nitisonone- inhibit production of toxic metabolites
- liver transplant
Treatment in maple syrup during episode?
and definite tx?
liver tranplant- allow’s healing
during acute episode- hydration and dialysis (to clear toxic AA (BCAA) from blood)
isoleucine, valine, leucine
Which metabolic disorder is a/w sweating feets and few months after birth with neurologic decline and marcocehaplus?
Gkutaruc aciduria type 1
Classic Galactosemia
enzyme
clinical presentation
Tx
Galactose -1- phosphate uridyltrsnaferase (GALT)
clinical pst
Poor feeding, vomiting, FTT, jaundice + hepatosplenomegaly, easy brusing
Bi-lateral cataracts = accumulation of Galactitol
E.coli spesis
Metachromatic leukodydyropy
which enzyme def?
presentation?
Arylsulfatasa A def = accumulation of cerebroside sulfate
clinical
ataxia
seizures
peripharal neuropathy
hypotonia
dementia
Which sphingolipidosis a/w high risk for parkinson
Gucher disease
Gucher disease
Def of which enzyme
and presentation
Def. of Glcocerebrosidase»_space; accumulation of glucocerebroside
clinical
Hepatopslenomegaly, pancytopenia, osteoporosis, a-vascular necrosis of femural head, bone crises
Which histologic finding is pathognemonic for krabbe disease?
Formation of globoid cells
Which disease is a/w def. in Alpha-galactosidase A?
Fabry
accumulaiton of Ceramide trihexoside
X-linked res.
most common Glycogen storage disease?
which enzyme is def.?
Von gierke (type I)
Glucose 6 phosphatase
which GSD is a/w
Heptomegaly
Renomeglay
lactic acidosis
hyperttriglyceridemia and uric acid with tendon xanthomas
Von gireke disease
Which GSD a/w def in lysosomal acid alpha 1-4 glucosidase
pompe disease
Which organs are involve in pompe disease?
Cardiomegaly
hepatomegaly
macroglossia
and hypotonia
a/w myopathy»_space; respiratory failure
eleveted CK . normal glucose in blood
lo
Which GSD disease a/w myoglobinuria and muscle cramps during exrecise?
McArdle disease (V)
muscle glycogen phosphorylase
which GSD is a/w second wind phenomenon?
McArdle disease
second wind- recovery after short resting
What is the hallmark of pompe disease that not typically observed in von gireke disease?
Cardiomegaly
Which enzyme is def. in Krabbe disease
Galactocerbrosidase
