BACKGROUND: Rapid and accurate diagnosis of mucopolysaccharidoses (MPS) is still a challenge due to poor access to screening and diagnostic methods and to their extensive clinical heterogeneity. The aim of this work is to perform laboratory biochemical testing for confirming the diagnosis of mucopolysaccharidosis (MPS) for the first time in Morocco. METHODS: Over a period of twelve months, 88 patients suspected of having Mucopolysaccharidosis (MPS) were referred to our laboratory. Quantitative and qualitative urine glycosaminoglycan (GAG) analyses were performed, and enzyme activity was assayed on dried blood spots (DBS) using fluorogenic substrates. Enzyme activity was measured as normal, low, or undetectable. RESULTS: Of the 88 patients studied, 26 were confirmed to have MPS; 19 MPS I (Hurler syndrome; OMIM #607014/Hurler-Scheie syndrome; OMIM #607015), 2 MPS II (Hunter syndrome; OMIM #309900), 2 MPS IIIA (Sanfilippo syndrome; OMIM #252900), 1 MPS IIIB (Sanfilippo syndrome; OMIM #252920) and 2 MPS VI (Maroteaux-Lamy syndrome; OMIM #253200). Parental consanguinity was present in 80.76% of cases. Qualitative urinary glycosaminoglycan (uGAGs) assays showed abnormal profiles in 31 cases, and further quantitative urinary GAG evaluation and Thin Layer Chromatography (TLC) provided important additional information about the likely MPS diagnosis. The final diagnosis was confirmed by specific enzyme activity analysis in the DBS samples. CONCLUSIONS: The present study shows that the adoption of combined urinary substrate analysis and enzyme assays using dried blood spots can facilitate such diagnosis, offer an important tool for an appropriate supporting care, and a specific therapy, when available.
Mucopolysaccharidoses/diagnosis , Mucopolysaccharidoses/urine , Urinalysis , Adolescent , Arylsulfatases/metabolism , Arylsulfatases/urine , Child , Child, Preschool , Chromatography, Thin Layer , Dried Blood Spot Testing/economics , Dried Blood Spot Testing/methods , Female , Glycosaminoglycans/analysis , Glycosaminoglycans/metabolism , Humans , Iduronidase/metabolism , Iduronidase/urine , Male , Morocco , Mucopolysaccharidoses/enzymology , Mucopolysaccharidoses/metabolism , Pilot Projects , Urinalysis/economics , Urinalysis/methods
Ca(CF3CO2)2 efficiently catalyzed the selective ring-opening of epoxides by amines leading to the synthesis of ß-aminoalcohols. The reaction works well with various aromatic and aliphatic amines under solvent-free conditions. Corresponding ß-aminoalcohols were obtained in excellent yields with high regioselectivity. The catalyst was easily prepared by reaction of CaH2 in trifluoroacetic acid.
Amines/chemistry , Calcium/chemistry , Epoxy Compounds/chemistry , Trifluoroacetic Acid/chemistry , Catalysis , Stereoisomerism , Substrate Specificity
The title compound, C17H21NO2, was synthesized by the reaction of (1R)-(+)-3-benzyl-camphor and hydroxyl-amine. The oxazole ring makes a dihedral angle of 23.42â (16)° with the phenyl ring. The six-membered ring of the norboryl group adopts a boat conformation, whereas each of the five-membered rings of the norboryl group displays a flattened envelope conformation, with the C atom carrying the methyl groups representing the flap for both rings. In the crystal, mol-ecules are linked into zigzag chains propagating along the b axis by O-Hâ¯N hydrogen bonds.
The whole mol-ecule of the title ß-enamino-ester, C(16)H(28)N(2)O(4), is generated by a crystallographic inversion center, situated at the mid-point of the central C-C bond of the 1,4-diamino-butane segment. There are two intra-molecular N-Hâ¯O hydrogen bonds that generate S(6) ring motifs. This leads to the Z conformation about the C=C bonds [1.3756â (17)â Å]. The mol-ecule is S-shaped with the planar central 1,4-diamino-butane segment [maximum deviation for non H-atoms = 0.0058â (13)â Å] being inclined to the ethyl butyl-enonate fragment [C-C-O-C-C=C-C; maximum deviation = 0.0710â (12)â Å] by 15.56â (10)°. In the crystal, mol-ecules are linked via C-Hâ¯O inter-actions, leading to the formation of an undulating two-dimensional network lying parallel to the bc plane.
The title compound, C(11)H(14)Cl(4)O, was efficiently synthesized by atom-transfer radical addition between (R)-carvone and tetra-chloro-methane. In the mol-ecule, both chiral centres are of the absolute configuration R. The cyclo-hex-2-enone ring has an envelope conformation with the chiral C atom displaced by 0.633â (2)â Å from the mean plane through the other five C atoms [maximum deviation = 0.036â (2)â Å]. In the crystal, mol-ecules are linked via C-Hâ¯O inter-actions, leading to the formation of helical chains propagating along [100].
The title compound, C(16)H(19)NO, was synthesized under solvent-free conditions by reaction of 7-oxa-bicyclo-[4.1.0]heptane and naphthalen-1-amine in the presence of Ca(CF(3)COO)(2) as catalyst. The cyclo-hexane ring adopts a chair conformation. In the crystal, mol-ecules are linked by inter-molecular N-Hâ¯O hydrogen bonds and C-Hâ¯π inter-actions into chains parallel to the c axis.
The title compound, C(11)H(14)Cl(2)O, was synthesized by the reaction of a dichloro-methane solution of (R)-carvone and potassium tert-butano-late in the presence of a catalytic amount of benzyl-triethyl-ammonium chloride in chloro-form. The cyclo-hexene ring adopts a half-boat conformation. The cyclo-propyl ring is unsymmetrical, the shortest C-C bond being distal to the alkyl-substituted C atom. The crystal packing is stabilized only by van der Waals inter-actions.
The title compound, C(15)H(15)NO, which was synthesized under solvent-free conditions by the reaction of acetoacetone and 2-naphthyl-amine, adopts a Z conformation about the C=C bond. The enamine-ketone fragment is approximately planar [maximum deviation = 0.026â (3)â Å] and forms a dihedral angle of 39.78â (3)° with the naphthalene ring system. An intra-molecular N-Hâ¯O hydrogen bond is observed.
The title compound, C(11)H(16)Cl(4), was synthesized by the reaction of (1S)-ß-pinene with triethyl-amine in the presence of ZnCl(2). The cyclo-hexene ring assumes a half-boat conformation. The crystal packing is governed only by van der Waals inter-actions. The structure, which has been refined in P2(1), presents a striking P2(1)/m pseudosymmetry.
The asymmetric unit of the title compound, C(18)H(30)N(2)O(4), contains two independent mol-ecules. In each mol-ecule, the cyclo-hexane ring adopts a chair conformation with equatorial orientation of the substituents, and the conformation is stabilized by two intra-molecular N-Hâ¯O hydrogen bonds, forming rings of S(6) graph-set motif. One eth-oxy group and one ethyl group are disordered over two sets of sites with refined occupancy ratios of 0.704â (2):0.296â (2) and 0.505â (3):0.495â (3), respectively. In the crystal, a weak inter-molecular C-Hâ¯O hydrogen inter-action is observed, involving the O atom of the major component of the disordered eth-oxy group.
In the title complex mol-ecule, [Rh(C(17)H(19)O(2))(C(7)H(8))], the rhodium(I) metal centre is coordinated by the O atoms of a benzoyl-camphorate anion and the C=C bonds of the norbornadiene mol-ecule into a slightly distorted square-planar coordination geometry. The six-membered chelate ring is essentially planar (r.m.s. deviation = 0.0378â Å) and forms a dihedral angle of 31.67â (11)° with the phenyl ring.
The title compound, C(17)H(25)NO(2), was synthesized by epoxidation of the double bond of (S)-perillyl alcohol [(S)-4-isopropenyl-1-cyclo-hexenyl-methanol], followed by the oxirane ring-opening by benzyl-amine using [Ca(CF(3)CO(2))(2)] as catalyst under solvent-free condition at 313â K. The mol-ecular conformation is stabilized by an intra-molecular O-Hâ¯N hydrogen bond. In the crystal, mol-ecules are linked by inter-molecular N-Hâ¯O hydrogen bonds, forming chains parallel to the a axis, which are further connected by O-Hâ¯O hydrogen bonds into sheets parallel to (010). The absolute configuration of the mol-ecule is known from the synthetic procedure.
