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Orphanet Journal of Rare Diseases

, 10:73

First Online: 12 June 2015Received: 10 March 2015Accepted: 27 May 2015DOI: 10.1186-s13023-015-0289-7

Cite this article as: Höck, M., Wegleiter, K., Ralser, E. et al. Orphanet J Rare Dis 2015 10: 73. doi:10.1186-s13023-015-0289-7

Abstract

BackgroundSince 1980, about 100 types of congenital disorders of glycosylation CDG have been reported representing an expanding group of inherited disorders. ALG8-CDG = CDG-Ih is one of the less frequently reported types of CDG, maybe due to its severe multi-organ involvement with coagulation disturbances, edema, massive gastrointestinal protein loosing enteropathy, cataracts, and often early death. We report three additional patients, provide an update on two previously reported, and summarize features of ten patients reported in literature.

ResultsOf 15 ALG8-CDG patients, three were homozygous and 12 compound heterozygous. There were multiple prenatal abnormalities in 6-12 patients. In 13-15, there were symptoms at birth, 9-15 died within 12 months. Birth weight was appropriate in 11-12, only one was small for gestational age. Prematurity was reported in 7-12. Hydrops fetalis was noticed in 3, edemas in 11-13; gastrointestinal symptoms in 9-14; structural brain pathology, psychomental retardation, seizures, ataxia in 12-13, muscle hypotonia in 13-14. Common dysmorphic signs were: low set ears, macroglossia, hypertelorism, pes equinovarus, campto- and brachydactyly 13-15. In 10-11, there was coagulopathy, in 8-11 elevated transaminases; thrombocytopenia was present in 9-9. Eye involvement was reported in 9-14. CDG typical skin involvement was reported in 8-13.

ConclusionIn ALG8-CDG, isoelectric focusing of transferrin in serum or plasma shows an abnormal sialotransferrin pattern. The diagnosis is confirmed by mutation analysis in ALG8; all patients reported so far had point mutations or small deletions. The prognosis is generally poor. Thus, a timely and correct diagnosis is important for counselling.

KeywordsCongenital disorders of glycosylation Isoelectric focusing of transferrin Hydrops fetalis Cataract Coagulopathy Gastrointestinal symptoms AbbreviationsALG8-CDGAlpha-1,3-Glucosyltransferase CDG

CDGCongenital disorder of glycosylation

IUGRIntrauterine growth restriction

AGA-SGAAppropriate for gestational age-small for gestational age

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Autor: Michaela Höck - Karina Wegleiter - Elisabeth Ralser - Ursula Kiechl-Kohlendorfer - Sabine Scholl-Bürgi - Christine Fauth -

Fuente: https://link.springer.com/



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