Carbohydrate‐deficient glycoprotein syndrome due to phosphomannomutase deficiency: The first reported cases from Latin America

Michelena, María Isabel de; Franchi, Luis Miguel; Summers, Percy G.; Fuente, Carlos de la; Campos, Patricia J.; Jaeken, Jaak

doi:10.1002/(sici)1096-8628(19990611)84:5<481::aid-ajmg13>3.3.co;2-z

Cited by 5 publications

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“…Almond-shaped eyes have also been frequently described, including in 7 of a series of 13 patients (Serrano et al 2015). Other features reported in more than single patients include skin/peau d’orange in 7 (Clayton et al 1992; Vabres et al 1998; de Michelena et al 1999; Stark et al 2000; Noelle et al 2005; van de Kamp et al 2007), dysplastic ears (cupped, anteverted or crumpled) in 7 patients (Clayton et al 1992; Garel et al 1998; Tayebi et al 2002; Rudaks et al 2012; Resende et al 2014; Serrano et al 2015), low-set ears in 6 (Clayton et al 1992; Imtiaz et al 2000; Al-Maawali et al 2014; Serrano et al 2015), long philtrum in 6 (Harding et al 1988; Pavone et al 1996; Morava et al 2004; van de Kamp et al 2007; Kasapkara et al 2017), high-arched palate in 5 (Tayebi et al 2002; Bubel et al 2002; Işıkay et al 2014; Kasapkara et al 2017), long face in 3 (de Michelena et al 1999; Tayebi et al 2002), narrow/short palpebral fissures in 3 (Truin et al 2008; Işıkay et al 2014), epicanthal folds in 2 (Tayebi et al 2002; Enns et al 2002), prominent nose in 2 (Barone et al 2008; Thong et al 2009), and anteverted nares in 2 (Tayebi et al 2002; Morava et al 2004). Other features variably reported included hypertelorism in 2 (Edwards et al 2006; Kasapkara et al 2017), but hypotelorism in 2 (Pavone et al 1996); downslanted palpebral fissures in 3 (Clayton et al 1992; Bubel et al 2002), while others had upslanted palpebral fissures (Kjaergaard et al 2001; Brum et al 2008); flat nasal bridge in 5 (Harding et al 1988; Tayebi et al 2002; Thong et al 2009; Al-Maawali et al 2014; Kasapkara et al 2017) but high nasal bridge in 4 (Artigas et al 1998; Antoun et al 1999; Laplace et al 2003).…”

Section: Resultsmentioning

confidence: 99%

Recognizable phenotypes in CDG

Ferreira

Altassan

Marques‐da‐Silva

et al. 2018

J of Inher Metab Disea

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Pattern recognition, using a group of characteristic, or discriminating features, is a powerful tool in metabolic diagnostic. A classic example of this approach is used in biochemical analysis of urine organic acid analysis, where the reporting depends more on the correlation of pertinent positive and negative findings, rather than on the absolute values of specific markers. Similar uses of pattern recognition in the field of biochemical genetics include the interpretation of data obtained by metabolomics, like glycomics, where a recognizable pattern or the presence of a specific glycan sub-fraction can lead to the direct diagnosis of certain types of congenital disorders of glycosylation. Another indispensable tool is the use of clinical pattern recognition-or syndromology-relying on careful phenotyping. While genomics might uncover variants not essential in the final clinical expression of disease, and metabolomics could point to a mixture of primary but also secondary changes in biochemical pathways, phenomics describes the clinically relevant manifestations and the full expression of the disease. In the current review we apply phenomics to the field of congenital disorders of glycosylation, focusing on recognizable differentiating findings in glycosylation disorders, characteristic dysmorphic features and malformations in PMM2-CDG, and overlapping patterns among the currently known glycosylation disorders based on their pathophysiological basis.

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Section: Resultsmentioning

confidence: 99%

Recognizable phenotypes in CDG

Ferreira

Altassan

Marques‐da‐Silva

et al. 2018

J of Inher Metab Disea

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“…New CDG types have recently been described, which prompted a new classification of the disorders, based on the biochemical pathway involved (6). Moreover, the clinical spectrum of these multisystemic diseases is in constant expansion, as is the description of new cases around the world (26,27). Moreover, the clinical spectrum of these multisystemic diseases is in constant expansion, as is the description of new cases around the world (26,27).…”

Section: Discussionmentioning

confidence: 99%

Personal Experience with the Application of Carbohydrate-Deficient Transferrin (CDT) Assays to the Detection of Congenital Disorders of Glycosylation

Colomé

Ferrer²,

Artuch³

et al. 2000

CCLM

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Congenital disorders of glycosylation (CDG) are genetic multisystemic diseases due to various defects in the biosynthesis or processing of glycoproteins. Our aim is to present our experience in the selective screening of CDG syndrome in a paediatric population (421 patients) with clinical suspicion of the disease, analysing serum carbohydrate-deficient transferrin (CDT) by radioimmunoassay and/or immunoturbidimetry. We established the normal values for our paediatric population. The abnormal results were confirmed and classified by isoelectric focusing of serum sialotransferrins, and by enzymatic and molecular studies. We found 14 patients (3.3%) with abnormal serum CDT; 11 of them were classified as CDG type Ia (CDG-Ia) and the other three showed altered isoelectrofocusing patterns but remain untyped and are under investigation. In conclusion, both CDT assays proved to be useful tools for CDG screening. Isoelectric focusing is a simple procedure but it requires specific instruments that are not always available. Since the immunoturbidimetric procedure is commonly used to monitor for recent excessive alcohol consumption in clinical laboratories and does not require special equipment, it may also be reliably used to screen for CDG in children under clinical suspicion.

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“…Apart from the unspecific clinical manifestations,these disorders are underdiagnosed for a number of reasons: medical unawareness of the disease, increased mortality in the first years of life, and unavailability of widespread specific laboratory tests. We were unable to find in the literature the frequency of CDG among children with symptoms suggestive of CDG.There is scarce information on Latin American patients with CDG [19][20][21].…”

Section: Introductionmentioning

confidence: 87%

Clinical and Molecular Features of Patients with Congenital Disorders of Glycosylation in Brazil

Brum¹,

Rizzo²,

Carvalho³

et al. 2013

Pediat Therapeut

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Introduction: Congenital Disorders of Glycosylation are a group of genetic disorders due to abnormal glycosylation of glycoproteins and glycolipids. Based on isoelectric focusing of plasma transferrin results, CDG are classified in two groups: CDG-I and CDG-II. While the diagnosis of PMM2-CDG (formerly CDG-Ia) and PMI-CDG (formerly CDG-Ib) is made by demonstration of the enzyme deficiency or by gene sequencing, the diagnosis of the other CDG is not easily performed. Psychomotor delay/mental retardation, hypotonia, seizures, ataxia, cerebellar atrophy, strabismus, inverted nipples, lipodystrophy, and stroke-like episodes characterize PMM2-CDG, by far the most common CDG. There is almost no information available in the literature on the frequency of CDG in patients with psychomotor delay/ mental retardation. Patients and methods: We performed transferrin isoelectric focusing in 2619 patients who had psychomotor delay/mental retardation associated with other symptoms suggestive of CDG. Determination of leukocyte phosphomannomutase and phosphomannoseisomerase activities and PMM2 gene sequencing was performed in selected patients. Results: We found 32 affected patients (26 CDG-I and 6-CDG-II). CDG-I group: The most prevalent PMM2-CDG clinical symptoms were those expected. We identified two novel mutations: p.G79V and p.R21W. Non-PMM2, non-PMI-CDG showed more frequently coagulopathy, hypotonia, cerebellar atrophy, and cryptorchidism/micropenis. Early deaths were found exclusively in this group. Ataxia, strabismus, elevated blood FSH and LH levels were more frequent in PMM2-CDG patients. CDG-II group: four out of six patients presented cutis laxa, seizures, large fontanel, facial dysmorphism, and non-lissencephalic cortical dysplasia. Hip luxation was present in three patients, and hydronephrosis in one. The other two patients had heterogeneous features. Conclusions: We determined the frequency of CDG in a selected Brazilian cohort with symptoms suggestive of CDG as 1.2%(CDG-I ~ 1.0% and CDG-II ~ 0.2%), and identified two novel mutations in the PMM2 gene.

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Carbohydrate‐deficient glycoprotein syndrome due to phosphomannomutase deficiency: The first reported cases from Latin America

Cited by 5 publications

References 0 publications

Recognizable phenotypes in CDG

Recognizable phenotypes in CDG

Personal Experience with the Application of Carbohydrate-Deficient Transferrin (CDT) Assays to the Detection of Congenital Disorders of Glycosylation

Clinical and Molecular Features of Patients with Congenital Disorders of Glycosylation in Brazil

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