Inborn Metabolic Diseases Diagnosis and Treatment - part 2 doc

... Deficiency – 361 29 .1 .2 Succinic Semialdehyde Dehydrogenase Deficiency – 3 62 29 .2 Inborn Defects of Receptors and Transporters of Neurotransmitters – 3 62 29 .2. 1 Hyperekplexia – 3 62 29 .2. 2 GABA Receptor ... Biol Chem 27 2: 125 6 0-1 25 67 29 . Bulle F, Mattei MG, Siegrist S et al (1987) Assignment of the human γ-glutamyl transferase gene to the long arm of chromo-some 22 . Hum Genet 76 :28 3 -2 8630. Courtay ... hydantoin-5-propionate, a stable oxidation product of the formiminoglutamate precursor, 4-imidazolone-5-propio-nate and 4-amino-5-imidazolecarboxamide, an interme-diate of purine synthesis. Treatment...

... multi-approach study. J Inherit Metab Dis 28 :20 3- 22 7 22 . Mendelson DS, Wasserstein MP, Desnick RJ et al (20 06) Chest radio-graph, high-resolution CT, and pulmonary function findings in Niemann-Pick ... ganglioside GM2 which requires 3 gene prod-ucts: the E-hexosaminidase D- and E-subunits and the GM2 activator protein. Tay-Sachs disease corresponds to a de ficiency of the D-subunit and thus ... SKAAspartylglucos-aminuriaAspartylglucosamini-daseAspartyl-glucos-amine4q3 2- 3 3 C163S (90% of Finnish patients)Urine oligos WBC enzyme assay CVB CNS, DYS, SD (+/–)Schindler disease α-N-Acetylgalactos-aminidaseN-Acetylgalactos-amineglycolipids 22 q13. 1-1 3.2...

... Tests – 124 7.1.5 Treatment and Prognosis – 124 7 .2 Uridine Diphosphate-Galactose 4'-Epimerase Deficiency – 126 7 .2. 1 Clinical Presentation – 126 7 .2. 2 Metabolic Derangement – 126 7 .2. 3 Genetics ... chromosome Xp 22. 2-p 22. 1, the PHKB gene to chromosome 16q 1 2- q13, and the PKHG2 gene to chromo-some 16p 1 2- p11 [75, 79, 80].6.1 · The Liver Glycogenoses Chapter 6 · The Glycogen Storage Diseases and ... 126 7 .2. 4 Diagnostic Tests – 127 7 .2. 5 Treatment and Prognosis – 127 7.3 Galactokinase Deficiency – 127 7.3.1 Clinical Presentation – 127 7.3 .2 Metabolic Derangement – 127 7.3.3 Genetics – 127 7.3.4...