Inborn Errors of Metabolism - Science topic
Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products). In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or to the effects of reduced ability to synthesize essential compounds. Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic diseases.
Questions related to Inborn Errors of Metabolism
A full-term female infant failed to gain weight and showed metabolic acidosis in the neonatal period. A physical examination at 6 months showed failure to thrive, hypotonia, small muscle mass, severe head lag, and a persistent acidosis (pH 7.0 to 7.2). Blood lactate, pyruvate, and alanine were greatly elevated. Treatment with thiamine did not alleviate the lactic acidosis. Which of the following enzymes is most likely deficient in this patient?
a) Alanine amino transferase
b) Phosphoenolpyruvate carboxy kinase
c) Pyruvate carboxylase
d) Pyruvate dehydrogenase
e) Pyruvate kinase
Treating children known to have metabolic disorders often includes ensuring adequate amount of calories for age and weight to avoid catabolism, that is usually by giving glucose solution 10%.
What is the long term impact of the sugary fluids on these patients?
Does it contribute to generating some degree of insulin resistance?
Can we predict the insulin resistance if so?
will HOMA-IR serve as a good predictor test?
For working on inborn errors of metabolism in human samples. I have Agilent's Zorbax Eclipse Plus C18 column (4.6 X 250 mm, 5 micron) and Zorbax 300SB-C-18 column (4.6 X 250 mm, 5 micron). Can I use them in my HPLC for amino acid separation in human blood and urine samples. If so, which one will be better?
Can someone help me find an specific Medical History format for patients diagnosed with an inborn error of metabolism by neonatal screening or in general? Or do you work with general medical history formats?
I would like to do quantitative estimation of amino acids in blood sample for inborn errors of metabolism. I have a new agilent HPLC 1260 model. Can anyone provide the protocol? Thanks in advance.
Should I carry out a case control study or cross sectional study in case where incidence is very rare such as 1 in 1000 or so?
We are working out a diagnosis of MNGIE in two patient, but we seem to be unable to nail down mutation, therefore we need metabolic diagnosis. Preferably in Germany.
Maple syrup urine disease (MSUD) is an inherited disorder of branched-chain amino acid metabolism presenting with lifethreatening cerebral oedema in affected individuals. Treatment requires life-long dietary restriction and monitoring of branched-chain amino acids to avoid brain injury. Despite careful management, children commonly suffer metabolic decompensation in the context of catabolic stress associated with non-specific illness.