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Biology Articles » Biochemistry » An insight into the biochemistry of inborn errors of metabolism for a clinical neurologist » Figures

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

 

mcith_001.jpg 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.

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mcith_002.jpg 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

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mcith_003.jpg Figure 3   Evaluation of metabolic acidosis

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mcith_004.jpg 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

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mcith_005.jpg 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

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mcith_006.jpg Figure 6   MRI (FLAIR) in a 20 months old girl with phenylketonuria. Note the periventricular hyperintensities

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mcith_007.jpg 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

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mcith_008.jpg 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

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mcith_001.jpg Figure 9   MRI (T2W) in a 12- year old boy with methylmalonic acidemia. Note the bilateral symmetrical hyperintensities involving the medial globus pallidi

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