Figures - Biology Online

Figures

- An insight into the biochemistry of inborn errors of metabolism for a clinical neurologist

	Figure 1 An approach to inherited metabolic disorders with chronic encephalopathy.[3] GM2: GM2 gangliosidosis, GM1: GM1 gangliosidosis, NCL: neuronal ceroid lipofuscinosis, MELAS: mitochondrial encephalopathy lactic acidosis syndrome, X-ALD: X-adrenoleukodystrophy, MLD: metachromatic leukodystrophy, MPS: mucopolysaccharidosis, MSD: multiple sulfatase deficiency. (Click image to enlarge)
	Figure 2 Biochemical evaluation of hypoglycaemia Pl: Plasma, HFI: Hereditary fructose intolerance, FAO: Fatty acid oxidation, GSD: Glycogen storage disorder, FBP: Fructose-1,6-bisphosphatase deficiency, GH: Growth hormone, IGF-1: insulin-like growth factor-1 (Click image to enlarge)
	Figure 3 Evaluation of metabolic acidosis (Click image to enlarge)
	Figure 4 Evaluation of metabolic acidosis with increased anion gap L/P: Lactate/pyruvate ratio, N: Normal, «: Decreased, ª: Increased, GSD I: glycogen storage disorder type I, FBP: fructose-1, 6-bisphosphatase deficiency, PEPCK: phosphoenolpyruvate carboxykinase deficiency, PDH: Pyruvate dehydrogense deficiency, PC: pyruvate carboxylase deficiency (Click image to enlarge)
	Figure 5 An approach to diagnosis of hyperammonemia in older children OA: organic acidurias, FAO: fatty acid oxidation defects, PC: pyruvate carboxylase deficiency, PDH: pyruvate dehydrogenase deficiency, ASA: argininosuccinic acid, AS: argininosuccinic aciduria, NAGS: N-acetylglutamate synthetase deficiency, CPS I: carbamoyl phosphate synthetase I deficiency, OTC: ornithine transcarbamoylase deficiency, HHH: hyperornithinemia hyperammonemia homocitrullinuria syndrome, LPI: lysinuric protein intolerance (Click image to enlarge)
	Figure 6 MRI (FLAIR) in a 20 months old girl with phenylketonuria. Note the periventricular hyperintensities (Click image to enlarge)
	Figure 7 MRI (T2W ) in a 14 days- old baby with classic maple syrup urine disease. Note the diffuse symmetrical white matter hyper intensity of white matter. In addition, note involvement of globus pallidi and thalami (Click image to enlarge)
	Figure 8 MRI (T2 W) in a 15 months old baby with glutaric aciduria type 1. Note the widened sylvian fissures, bilateral symmetrical signal changes in the basal ganglia. and widened subarachnoid spaces (Click image to enlarge)
	Figure 9 MRI (T2W) in a 12- year old boy with methylmalonic acidemia. Note the bilateral symmetrical hyperintensities involving the medial globus pallidi (Click image to enlarge)