Inborn Metabolic Diseases Diagnosis and Treatment - part 3 ppt

... 133 8.1.2 Metabolic Derangement – 133 8.1 .3 Genetics – 133 8.1.4 Diagnostic Tests – 133 8.1.5 Treatment and Prognosis – 133 8.2 Transaldolase Deficiency – 133 8.2.1 Clinical Presentation – 133 8.2.2 ... raffinose-stachyose-question. Eur J Pediatr 154[Suppl 2]: S 939 6 38 . Gitzelmann R, Auricchio S (1965) The handling of soya alpha-galac- tosides by a normal and a galactosem...

Ngày tải lên: 12/08/2014, 05:21

... 100–200 mg 3 times daily, gradually increased over 2–4 weeks to 1–2 g 3 times daily Oral 32 NTBC ( 2-[ 2-nitro-4-tri- fluoro-methylben- zoyl ]-1 , 3- cyclhexane- dione) Inhibits 4-hydroxyphenylpyru- vate ... 3. 5–4.6 2.8–4 .3 2.8 3. 8 3. 8–4.9 3. 0–4 .3 Lactate (mM) 0.9–1.8 0.5–1.7 0.7–1.6 0.6–0.9 0.4–0.9 FFA (mM) 0.6–1 .3 0.9–2.6 1.1–2.8 0. 6-1 .3 1. 0-1 .8 KB (mM) 0.6...

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 - methylglutar...

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, ... Tyrosinaemia Type III – 239 18 .3. 1 Clinical Presentation – 239 18 .3. 2 Metabolic Derangement – 239 18 .3. 3 Genetics – 240 18 .3. 4 Diagnostic Tests – 240 18 .3. 5 Treatment...

Ngày tải lên: 12/08/2014, 05:21

... Wevers 31 .1 Trimethylaminuria (Fish Odour Syndrome) – 38 3 31 .1.1 Clinical Presentation – 38 3 31 .1.2 Metabolic Derangement – 38 3 31 .1 .3 Genetics – 38 3 31 .1.4 Diagnostic Tests – 38 3 31 .1.5 Treatment ... Treatment – 38 3 31 .2 Dimethylglycine Dehydrogenase Deficiency – 38 4 31 .2.1 Clinical Presentation – 38 4 31 .2.2 Metabolic Derangement – 38 4 31 .2 .3...

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 ta...

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 22q 13. 1-1 3. 2 ... 37 :7 5-8 1 33 . Myerowitz R, Lawson D, Mizukami H et al (2002) Molecular patho- physio logy in Tay-Sachs...

Ngày tải lên: 12/08/2014, 05:21

... disease. Acta Neurol Scand 1 03: 335 34 3 37 . Sun WM, Read NW, Donnelly TC (1990) Anorectal function in incontinent patients with cerebrospinal disease. Gastroenterology 99: 137 2– 137 9 38 . Talley NJ, Howell ... (1959) Closed hemorrhoidec- tomy. Dis Colon Rectum 2:176–179 222. Parks AG (1956) The surgical treatment of haemor- rhoids. Br J Surg 43: 337 35 1 2 23. Longo A (1998) Treatme...

Ngày tải lên: 10/08/2014, 15:20

... 36 5(9464):1046–10 53. 115. Martinez-Garcia MA, Galiano-Blancart R, Roman-Sanchez P, Soler-Cataluna J-J, Cabero-Salt L, Salcedo-Maiques E. Continuous positive airway pressure treatment in sleep apnea pre- vents ... central sleep apnea and heart failure. N Engl J Med 2005; 35 3(19):2025–2 033 . 129. Somers VK. Sleep—a new cardiovascular frontier. N Engl J Med 2005; 35 3(19):2070–20 7...

Ngày tải lên: 10/08/2014, 18:21

... fat deposits 1 13 paravertebral muscle 605 paresis 2 03, 222, 4 93 –flaccid 30 6 – of foot elevation 31 0 –spastic 30 6 parietal pleura 34 9, 35 1 Paris cast 899 Parkinson’s syndrome 33 3 partial thromboplastin ... 204, 222, 436 – syndrome 204, 491 radiculopathy 208, 261, 2 93, 30 9, 31 0, 32 0, 33 2, 437 , 4 83, 488, 494, 519, 1087 –C5 464 – – spondylotic 431 – cervical 461, 4...

Ngày tải lên: 02/07/2014, 06:20