Abnormal fat distribution in PMM2-CDG

Wolthuis, David F.G.J.; Asbeck, Ellyze van; Kozicz, Tamás; Morava, Éva

doi:10.1016/j.ymgme.2013.08.017

Cited by 9 publications

(7 citation statements)

References 27 publications

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“…The first phenotype is the infantile onset and patients usually present with multisystem involvement. Historically, the affected infants suffer from cerebellar hypoplasia, global developmental delay, facial dysmorphism and impaired subcutaneous fat distribution [80]. However, the clinical phenotype continues to be highly variable to include patients with normal cognitive function [81].…”

Section: Congenital Disorder Of Glycosylation (Cdg) Iamentioning

confidence: 99%

Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review

Salih¹

2018

Sudan J Paed

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Inborn errors of metabolism (IEM) are heterogeneous group of disorders that might present in the clinics or emergency departments in different phenotypes, and one of these is a diabetes scenario. Diabetes is the most common endocrine disorder among children. The mechanism of how IEM could lead to diabetes is unclear; however, the postulated pathogenesis consists of three mechanisms: 1) accumulation of toxic substance in the gland, ruining structure and normal functionality, 2) disturbing energy availability required for hormone synthesis and 3) defect of complex molecules. The differential diagnosis of IEM associated with hyperglycaemic ketoacidosis and diabetes include: organic acidemias specifically propionic acidemia, methylmalonic acidemia, isovaleric acidemia, hereditary hemochromatosis, aceruloplasminemia, holocarboxylase synthetase deficiency, β-ketothiolase deficiency and finally, cystinosis, Rogers syndrome (thiamine-responsive megaloblastic anaemia) and congenital disorders of glycosylation type Ia. Clinical approach will help in ready diagnosis and treatment for IEM disorders in early detection of diabetes. In this review, we will discuss the differential diagnosis, clinical features and diagnostic approaches of IEM presenting as hyperglycaemic ketoacidosis and diabetes.

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Section: Congenital Disorder Of Glycosylation (Cdg) Iamentioning

confidence: 99%

Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review

Salih¹

2018

Sudan J Paed

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“…Altered leptin signaling secondary to glycosylation abnormalities may be contributory (Knerr et al 2013). Leptin is a key energy and fat storage regulator (Kratzsch et al 2002) and abnormal leptin signaling due to hypoglycosylation has also been considered in abnormal fat distribution in PMM2-CDG (Wolthuis et al 2013).…”

Section: Congenital Disorders Of Glycosylationmentioning

confidence: 99%

Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review

et al. 2016

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Classical galactosaemia is a rare disorder of carbohydrate metabolism caused by galactose-1-phosphate uridyltransferase (GALT) deficiency (EC 2.7.7.12). The disease is life threatening if left untreated in neonates and the only available treatment option is a long-term galactose restricted diet. While this is lifesaving in the neonate, complications persist in treated individuals, and the cause of these, despite early initiation of treatment, and shared GALT genotypes remain poorly understood. Systemic abnormal glycosylation has been proposed to contribute substantially to the ongoing pathophysiology. The gross N-glycosylation assembly defects observed in the untreated neonate correct over time with treatment. However, N-glycosylation processing defects persist in treated children and adults.Congenital disorders of glycosylation (CDG) are a large group of over 100 inherited disorders affecting largely N-and O-glycosylation.In this review, we compare the clinical features observed in galactosaemia with a number of predominant CDG conditions.We also summarize the N-glycosylation abnormalities, which we have described in galactosaemia adult and paediatric patients, using an automated high-throughput HILIC-UPLC analysis of galactose incorporation into serum IgG with analysis of the corresponding N-glycan gene expression patterns and the affected pathways.

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“…However, only a few PMM2-CDG patients have been published from Turkey (Isikay, Baspinar, & Yilmaz, 2014;Kasapkara et al, 2017). PMM2-CDG patients with Turkish ancestry are also rarely reported from Europe (Neumann, von Moers, Kunze, Blankenstein, & Marquardt, 2003), but more Turkish patients may exist in the literature, as ancestry is not mentioned in most of the published European case series (de Lonlay et al, 2001;Erlandson et al, 2001;Linssen, Mohamed, Wevers, Lefeber, & Morava, 2013;Wolthuis, van Asbeck, Kozicz, & Morava, 2013). In this study, we aimed to describe the clinical and molecular characteristics of PMM2-CDG patients from Turkey.…”

Section: Introductionmentioning

confidence: 99%

Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe

Yıldız

Arslan²,

Çelik

et al. 2020

American J of Med Genetics Pt A

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Phosphomannomutase 2 deficiency (PMM2‐CDG) is an autosomal recessive congenital disorder of glycosylation, characterized by multisystem phenotypes, mostly including neurological involvement. In Turkey, due to high rates of consanguinity, many patients with autosomal recessive disorders have homozygous variants and these diseases are more common, compared to Europe. However, published reports of PMM2‐CDG from Turkey are scarce. Here, we describe clinical and molecular characteristics of PMM2‐CDG patients diagnosed in three centers in Turkey, using data obtained retrospectively from hospital records. We also analyzed an in‐house exome database of 1,313 individuals for PMM2 variants and estimated allele, carrier and disease frequencies, using the Hardy–Weinberg law. Eleven patients were identified from 10 families, displaying similar characteristics to previous publications, with the exception of the first report of epilepsia partialis continua and increased prevalence of sensorineural hearing loss. p.Val231Met was the most common variant, and was homozygous in four patients. This novel genotype results in a neurological phenotype with subclinical visceral involvement. Exome database analysis showed an estimated prevalence of 1:286,726 for PMM2‐CDG, which is much lower than expected (1:20,000 in Europe) because of the lack of predominance of the common European p.Asp141His allele, associated with a severe phenotype (allele frequency of 1:2,622 compared to 1:252 in gnomAD). These data suggest that prevalence, phenotypes and genotypes of PMM2‐CDG in Turkey differ significantly from those in Europe: Milder phenotypes may be more common, but the disease itself rarer, requiring a higher clinical suspicion for diagnosis. The association of sensorineural hearing loss with PMM2‐CDG warrants further study.

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Abnormal fat distribution in PMM2-CDG

Cited by 9 publications

References 27 publications

Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review

Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review

Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review

Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe

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