Metabolic Flashcards
(87 cards)
Prenatal diagnosis of Zellweger (cerebrohepatorenal) syndrome can be achieved through?
Assays of peroxisomal enzymes activity (dihydroacetone-phosphate acyltransferase), peroxisomal metabolites, or molecular screening techniques. MRI performed in the third trimester can allow analysis of cerebral gyration and myelination
What does the peroxisome normally do?
Makes bile acids and plasminogen (key for cell wall structure)
Breaks down Phyntane and VLCFA
What does the lysosome do?
Helps recycle and breakdown cell particles within an acidic environment
Upturned nose, toes 2-3 syndactyly, tented upper lip
Smith-lemli-Opitz
How does ammonia cause respiratory encephalopathy?
Raises your respiratory drive and thus low CO2
Beaking of lumbar vertebrae
MPS - type I or II
Ketotic hypoglycaemia with elevated lactate and hepatosplenomegaly….fatty liver on imaging
Glycogen storage disease type I
Encephalopathic child with dystonia, macrocephaly
T2 hyperintensity of basal ganglia
Episode triggered by fever
Glutaric aciduria Type I
Pancytopenia, hepatosplenomegaly, hx of hip pain
Gaucher disease
What is an acylcarnitine profile?
Looks at fatty acid oxidation disorders
Looks at metabolites of beta oxidation
What does urine organic acid look for?
Many many disorder - looks for organic acidaemias, amino acidopathies, peroxismal disorders, disorders of neurotransmission
Addison’s disease is linked to _______
X linked adrenoleukodystrophy
Suspected Glycogen storage disorder with muscle weakness (at 2yo) …?
Glycogen Storage Type III
Glycogen storage disorder with neutropenia?
Glycogen storage Ib
Elevated octanylcarnitine…
MCAD
In ALD you see an accumulation of ______ due to abnormalities in _______
Tissue accumulation of VLCFA caused by deficiency peroxisomal degradation of FA
Acetyl Coa is converted to _____ which enters the electron chain transfer
Citrate
Lab findings in phenylketonuria?
Elevated serum and urine levels of phenylaline and low levels of tyrosine
Phenylketonuria is due a deficiency in which enzyme?
Phenylaline hydroxylase
How do you treat phenylketonuria?
You treat with Phenylaline free diet and tyrosine supplements
What are the risks associated with poorly controlled maternal phenylketonuria?
Risk of microcephaly, CHD, learning difficulties, corpus collosum hypoplasia and growth retardation in infants
This metabolic disorder due to reduced activity in BCKD and results in accumulation of branched amino acids (leucine, isoleucine and valine).
What is the disorder?
Maple syrup urine disease
What age group and common presentation of maple syrup urine disease?
Presents in the first week of life and often with encephalopathy/FTT/vomitting
Most common enzyme deficiency in classic homocysteinuria?
Apart from homocysteine, what else is elevated?
Cystathione synthetase
Elevated levels of Methanione