Metabolic investigations in epileptic encephalopathy

Metabolic investigations in epileptic encephalopathy

 First line investigations 

Blood
Urea & electrolytes
LFT/Bone function
Glucose
Plasma amino acids
Acylcarnitine
Lactate
Ammonia
Venous blood gas
Biotinidase
urine
Amino acids
Organic acids
Table 4
Blood
Transferrin isoforms
Uric acid
VLCFA(A very long chain fatty acid (VLCFA) is a fatty acid with 22 or more carbons. Their biosynthesis occurs in the endoplasmic reticulum.)
Dehydrocholesterol
Copper & ceruloplasmin
Total homocysteine
Other blood
Vacuolated lymphocytes
Enzyme assays for neuronal ceroid lipofuscinois

Urine
Purines & pyrimidines
Sulphite
Alfa aminoadipic semialdehvde (RASA)
Alpha-aminoadipic semialdehyde synthase is an enzyme encoded by the AASS gene in humans and is involved in their major lysine degradation pathway. It is similar to the separate enzymes coded for by the LYS1 and LYS9 genes in yeast, and related to, although not similar in structure, the bifunctional enzyme found in plants

Guanidino acetic acid
Gamma hydroxybutyric acid
Second line investigations
CSF
Glucose(with CSF to blood ratio <0 .4="" being="" br="">abnormal)
Lactate
Glycine
Serine
Other CSF
Neurotransmitters