By Carolina Arias, Erna Raimann, Pilar Peredo (auth.), Johannes Zschocke, K Michael Gibson, Garry Brown, Eva Morava, Verena Peters (eds.)

JIMD stories publishes case and brief learn reviews within the quarter of inherited metabolic issues. Case reviews spotlight a few strange or formerly unrecorded function suitable to the disease, or function an incredible reminder of medical or biochemical beneficial properties of a Mendelian disorder.

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2010; Haack et al. 2012; Gerards et al. 2011; Haack et al. 2012). Additional symptoms among these ten patients included lactic acidosis, failure to thrive, hypotonia, exercise intolerance, encephalomyopathy, cardiorespiratory depression, mild hearing loss, and short stature. We found a consistent slightly elevated excretion of 3-methylglutaconic acid, which can be an unspecific marker of a respiratory chain disorder. Excretion of 3-methylglutaconic acid was Arg518His (I-1) Glu63X and Glu413Lys (II-1) Phe44Ile and Arg266Gln (I:A) Phe44Ile and Arg266Gln (I:B) Arg266Gln and Arg417Cys (II) Ala326Pro and Arg532Trp (III) Arg532Trp (VII-6) Arg532Trp (VII-8) Arg532Trp (VII-11) Arg127Gln and Arg469Trp (CV) Arg532Trp (59029) Arg532Trp (59033) Arg532Trp (59036) Ala220Val Amino acid substitutions Pregnancy duration 41 w + 4 d 39 w + 6 d Term 35 Age on onset Birth 6m 2y Birth 4y 4y 4y Early CH 12 y 46 d 6m Age of death Birth Birth 24 h 8m 4m Alive at 31 38 40 27 5y y y y y 18 y – + + + + + + Brain abnormalities – – – – – + + – + Seizures – + + – – Psychiomotor dev.

As to animal models, feline NPC has been described with clinical, cytological, and cytochemical disease signs in heterozygotes (Brown et al. 1994 and 1996). Fig. 2 Foamy storage macrophages (“Niemann-Pick cells”) in bone marrow smears from heterozygotes with Niemann-Pick disease type C and a patient. Pappenheim staining; the largest diameters of the storage cells are 25 to 50 mm. (a–c) heterozygotes: (a) father, I/1, of II/1 (see Fig. 1); (b) mother, I/2; (c) II/1 (note the nucleus at the right edge of the light storage cells but beneath the dark lymphocyte); (d) a 10-year-old patient with late-infantile neurologic Niemann-Pick disease type C (independent observation).

2008). , headache, neck pain, or lower brainstem dysfunction) (Wu et al. 1999, Greenlee et al. 2002). All these symptoms and signs might be concealed by the multiorgan involvement in MPS, often characterized by vertebral column abnormalities (scoliosis, kyphosis), joint stiffness, brain deterioration and spinal cord dysfunction. In the general population, CM1 is due to the underdevelopment of mesenchymal structures forming the clivus and posterior cranial fossa bones (Milhorat et al. 2010). As MPS affect connective tissues with bone growth abnormalities (dysostosis multiplex), an increased rate of CM1 should not be completely unexpected.

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