Inborn Metabolic Diseases Diagnosis and Treatment - part 7 docx

... precursor, 4-imidazolone-5-propio- nate and 4-amino-5-imidazolecarboxamide, an interme- diate of purine synthesis. Treatment and Prognosis It is not clear whether reducing formiminoglutamate ex- cretion ... Clin 21 :76 5 -7 77 20. Molinari F, Raas-Rothschild A, Rio M et al (2005) Impaired mitochon- drial glutamate transport in autosomal recessive neonatal myo- clonic epilepsy. Am J...

Ngày tải lên: 12/08/2014, 05:21

... SKA Aspartylglucos- aminuria Aspartylglucosamini- dase Aspartyl-glucos- amine 4q3 2-3 3 C163S (90% of Finnish patients) Urine oligos WBC enzyme assay CVB CNS, DYS, SD (+/–) Schindler disease α-N-Acetylgalactos- aminidase N-Acetylgalactos- amineglycolipids 22q13. 1-1 3.2 ... disease: clini- cal presentation and use of prognostic index. Gut 27: 1 37 7- 1 381 11. Walshe JM, Yealland M (...

Ngày tải lên: 12/08/2014, 05:21

... acidaemia, or 2-methylbutyryl CoA dehydrogenase deficiency UOAs C 6 Hexanoylcarnitine MCAD, MADD C 5 -OH 3-Hydroxyisovaleryl carni- tine, or 2-methyl-3-hy- droxy-butyrylcarnitine Biotinidase, HMG-CoA ... 73 4.2 Emergency Management of Particular Clinical Presentations – 74 4.2.1 Neurological Deterioration – 74 4.2.2 Liver Failure – 77 4.2.3 Neonatal Hypoglycemia – 77 4.2.4 Cardiac...

Ngày tải lên: 12/08/2014, 05:21

... 126 7. 2.4 Diagnostic Tests – 1 27 7.2.5 Treatment and Prognosis – 1 27 7.3 Galactokinase Deficiency – 1 27 7.3.1 Clinical Presentation – 1 27 7.3.2 Metabolic Derangement – 1 27 7.3.3 Genetics – 1 27 7.3.4 ... aldolase toward fruc- tose-1,6-bisphosphate (mean 17% , range 5-3 0%). As a con- sequence, the ratio of V max towards fructose-1,6-bisphos- phate versus the V max towa...

Ngày tải lên: 12/08/2014, 05:21

... Tetradecenoyl- MCAD Octanoyl- Hexanoyl- Decenoyl- Suberyl- Phenylpropionyl- SCAD Butyryl- Butyryl- Ethylmalonic LCHAD 3-Hydroxy-palmitoyl- 3-Hydroxydicarboxylic 3-Hydroxy-oleoyl- 3-Hydroxy-linoleoyl- DER ... Dodecadienoyl- ETF and ETF-DH Butyryl- Isovaleryl- Ethylmalonic Isovaleryl- Hexanoyl- Glutaric Glutaryl- Isovaleric HMG-CoA lyase Methylglutaryl- 3-Hydroxy-3-methylglutaric DER, 2,4-die...

Ngày tải lên: 12/08/2014, 05:21

... psychomotor retardation, and leu- koencephalopathy in a 61-year-old female. 3-Methylglutaconyl (MGC)-CoA is metabolized to 3-hydroxy-3-methylglutaryl-CoA by 3-MGC-CoA hydra- tase ( . Fig. 19.1, ... B 12 -responsive and have a mild disease and good long-term outcome [7, 8, 45]. Conversely, both vitamin-B 12 -unrespon- sive patients with MMA and those with PA have severe dis- ease a...

Ngày tải lên: 12/08/2014, 05:21

... in plasma: 7D-hydroxycholes- terol, 7D-hydroxy-cholest-4-en-3-one, 7D,12D-dihydroxy- cholest-4-en-3-one. Plasma concentrations of bile acids are low; plasma concentrations of bile-alcohol glucuronides ... elevated, i.e. 7D-hy- droxy-3-oxo-4-cholenoic acid > 1.5µ M and 7DD-dihy- droxy-3-oxo-4-cholenoic acid > 2.0 µM. Analysis of plasma bile acids by ESI-MS/MS shows taurine-conjug...

Ngày tải lên: 12/08/2014, 05:21

... Colon Rectum 48:10 27 1036 30. Jorge JMN, Wexner SD (1993) Etiology and manage- ment of fecal incontinence. Dis Colon Rectum 36 :77 79 31. Ware JE (1993) SF-36 Health Survey, Manual and Interpretation, ... Hultman majority of patients [74 77 ], postoperative and short-term morbidity as well as long-term results reduce the overall efficacy of this treatment. Unfortu- nately, no series...

Ngày tải lên: 10/08/2014, 15:20

... Monographie. Berlin: Reimer 76 . Lyons PMJ (1831/32) Remarkable case of pure general anchylosis. Lancet 1: 27 29 77 . Macnab I (1 977 ) Backache, Baltimore: Williams & Wilkins, 1 977 78 . Magerl F (1982) ... instrumentation in the treatment of severe spon- dylolisthesis. Clin Orthop 1 17: 1 57 163 49. Heister L ( 171 9) Chirurgie, Nürnberg, 177 9 50. Heister L ( 176 8) A general syst...

Ngày tải lên: 02/07/2014, 06:20

... disease. Respir Med 2003; 97( 10):1151–11 57. 57. Arnulf I, Konofal E, Merino-Andreu M et al. Parkinson’s disease and sleepiness: an inte- gral part of PD. Neurology 2002; 58 (7) :1019–1024. 58. Emre ... 2004; 37( 4):330–3 37. 22. O’Brien LM, Holbrook CR, Mervis CB, et al. Sleep and neurobehavioral characteristics of 5- to 7- year-old children with parentally reported symptoms...

Ngày tải lên: 10/08/2014, 18:21