Recent European studies have shown that growth retardation is com-mon in people with phenylketonuria (PKU) during the first years of life while they receive a low-phenylalanine (Phe) diet. The aims of the present study were to assess the growth of our PKU patients and to search for nutritional and hormonal explanations for the growth delay. Twenty PKU patients aged 8 months to 7 years entered the study. The design was cross-sectional, a longitudinal study having already been performed in our centre. The following data were recorded: weight/height (W/H), height/age (H/A), and weight/age (W/A) Z-scores; fat-free mass (measured from bioelectrical impedometry (FFM1), and skinfold thickness (FFMA). Thyroid hormones, insulin-like growth factor I (IGF1), insulin-like growth factor binding protein (IGFBP3), selenium, zinc, and Phe blood levels were measured. Dietary intake was also recorded over 4 days. PKU patients were moderately but significantly shorter (H/A Z-score varied from -2.12 to 1.61; mean -0.49) and lighter (W/A Z-score varied from -2.58 to 1.49; mean -0.71) than the French reference population. Body composition was not different from that of controls matched for age and sex. IGF1, IGFBP3, and thyroid hormone levels were within normal range. All children received more than two-thirds of the recommended daily allowances for energy (91% +/- 18%) and for proteins (146% +/- 26%). The mean daily intake of our patients was sufficient in selenium, but markedly deficient in zinc (2.4 +/- 2.2 mg/day). No correlation was found between zinc daily intake or zinc plasma levels and growth retardation. Moreover, no relation was found between the plasma Phe concentrations, protein or caloric intake and the presence of growth retardation. Our results show that growth retardation in PKU patients is not related to hormonal or caloric deficiencies. Further studies are needed to investigate the effect of various nutrient supplementation regimens (especially zinc) on the growth of PKU patients.
Hereditary multiple atresias involving the gastrointestinal tract from pylorus to rectum are the most unusual form of intestinal atresia; the type of inheritance was suggested to be autosomal recessive. The inheritance of the severe combined immunodeficiency syndrome can be autosomal recessive or X-linked. We report on 3 sibs with multiple-level intestinal atresias. One sib had severe combined immunodeficiency syndrome and clinical histories of the other 2 sibs strongly suggested a congenital immunodeficiency syndrome. The parents of those children were healthy and nonconsanguineous. To our knowledge, this is the first report of the association of multiple gastrointestinal atresias and immunodeficiency which appears to have an autosomal recessive pattern of transmission. Our family report suggests that, in the presence of multiple gastrointestinal atresias, attention should be given to possible associated immunological disorders.
Urines of 11 patients with three different types of mucolipidosis characterized by a total or partial sialidase deficiency, were studied. In all cases, we found an important accumulation of sialyl‐oligosaccharides. The structure of 9 of them has been determined: α‐AcNeu‐(2→3)‐β‐Gal‐(1→4)‐β‐GlcNAc‐(1→2)‐α‐Man‐(1→3)‐β‐Man‐(1→4)‐GlcNAc, α‐AcNeu‐(2→6)‐β‐Gal‐(1→4)‐β‐GlcNAc‐(1→2)‐α‐Man‐(1→3)‐β‐Man‐(1→4)‐GlcNAc, α‐AcNeu‐(2→6)‐β‐Gal‐(1→4)‐β‐GlcNAc‐(1→2)‐α‐Man‐(1→3)[α‐Man‐(1→6)]β‐Man‐(1→4)‐GlcNAc, α‐AcNeu‐(2→3)‐β‐Gal‐(1→4)‐β‐GlcNAc‐(1→2)‐α‐Man‐(1→3)[β‐Gal‐(1→4)‐β‐GlcNAc‐(1→2)‐α‐Man‐(1→6)]β‐Man‐(1→4)‐GlcNAc, α‐AcNeu‐(2→6)‐β‐Gal‐(1→4)‐β‐GlcNAc‐(1→2)‐α‐Man‐(1→3)[β‐Gal‐(1→4)‐β‐GlcNAc‐(1→2)‐α‐Man‐(1→6)]β‐Man‐(1→4)‐GlcNAc, α‐AcNeu‐(2→6)‐β‐Gal‐(1→4)‐β‐GlcNAc‐(1→2)[α‐AcNeu‐(2→3)‐β‐Gal‐(1→4)‐β‐GlcNAc‐(1→4)]α‐Man‐(1→3)‐β‐Man‐(1→4)‐GlcNAc, α‐AcNeu‐(2→3)‐β‐Gal‐(1→4)‐β‐GlcNAc‐(1→2)‐α‐Man‐(1→3)[α‐AcNeu‐(2→3)‐β‐Gal‐(1→4)‐β‐GlcNAc‐(1→2)‐α‐Man‐(1→6)]β‐Man‐(1→4)‐GlcNAc, α‐AcNeu‐(2→6)‐β‐Gal‐(1→4)‐β‐GlcNAc‐(1→2)‐α‐Man‐(1→3)[α‐AcNeu‐(2→3)‐β‐Gal‐(1→4)‐β‐GlcNAc‐(1→2)‐α‐Man‐(1→6)]β‐Man‐(1→4)‐GlcNAc, α‐AcNeu‐(2→6)‐β‐Gal‐(1→4)‐β‐GlcNAc‐(1→2)‐α‐Man‐(1→3)[α‐AcNeu‐(2→6)‐β‐Gal‐(1→4)‐β‐GlcNAc‐(1→2)‐α‐Man‐(1→6)]β‐Man‐(1→4)‐GlcNAc.
All these compounds are products of incomplete catabolism of glycoproteins and result from the action of a new type of β‐endo‐N‐acetylglucosaminidase able to act on sialylated glycoproteins or glycopeptides. The term sialidosis is proposed for these three types of oligosaccharidosis.
Nine cases of mucolipidosis II are presented with illustrations and a discussion of specific radiologic features: these distinguish Mucolipidosis II from other storage diseases.
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