T-cell-depleted peripheral blood stem cell transplantation for α-mannosidosis

Albert, Michael H.; Schuster, Friedhelm R.; Peters, Charles; Schulze, Sandra; Pontz, B. F.; Muntau, Ania C.; Röschinger, Wulf; Stachel, Daniel; Enders, A.; Haas, R.; Schmid, Irene

doi:10.1038/sj.bmt.1704148

Cited by 17 publications

(14 citation statements)

References 16 publications

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“…It has been shown to have effects both in a cat model 11 and in humans, but only a few cases in humans have been published. [12][13][14][15][16] The largest experience with HSCT for lysosomal storage diseases exists in Hurler's disease, in which good long-term neurodevelopmental outcomes can be demonstrated (reviewed by Aldenhofen et al…”

Section: Introductionmentioning

confidence: 99%

Allogeneic hematopoietic SCT for alpha-mannosidosis: an analysis of 17 patients

Mynarek

Tolar

Albert

et al. 2011

Bone Marrow Transplant

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Section: Introductionmentioning

confidence: 99%

Allogeneic hematopoietic SCT for alpha-mannosidosis: an analysis of 17 patients

Mynarek

Tolar

Albert

et al. 2011

Bone Marrow Transplant

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“…Wall et al were the first to report stabilization of neurocognitive function in an alpha‐mannosidosis patient treated with bone marrow transplantation . Over the last 15 years case reports and small series of patients treated with transplantation have been published . Conditioning regimens varied from patient to patient as did source of stem cells (cord blood, bone marrow, peripheral blood stem cells) and the types of donors (HLA matched or mismatched, related or unrelated to the patient).…”

Section: Discussionmentioning

confidence: 99%

“…Literature‐based data were only included in the pooled analysis if the age at measurement was provided and the IQ was quantified rather than estimated. Fifteen publications with cognitive data on 31 patients were identified . The data were analyzed separately for those who had and had not undergone HCT.…”

Section: Methodsmentioning

confidence: 99%

“…Fifteen publications with cognitive data on 31 patients were identified. 5,6,[13][14][15][16][17][18][19][20][21][22][23][24][25] The data were analyzed separately for those who had and had not undergone HCT. The Table S2 includes the patient age, IQ, and cognitive test instrument for patients identified in the literature.…”

Section: Pooled Data From the Literature On Cognitive Functionmentioning

confidence: 99%

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Intellectual functioning in alpha‐mannosidosis

et al. 2019

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Alpha‐mannosidosis is a rare inherited metabolic disorder (OMIM #248500) caused by mutations in the enzyme α‐mannosidase encoded by the gene MAN2B1. Patients have distinct physical and developmental features, but only limited information regarding standardized cognitive functioning of patients has been published. Here we contribute intellectual ability scores (IQ) on 12 patients with alpha‐mannosidosis (ages 8‐59 years, 10 males, 2 females). In addition, a pooled analysis was performed with data collected from this investigation and 31 cases obtained from the literature, allowing a comprehensive analysis of intellectual functioning in this rare disease. The initial and pooled analyses show that patients with alpha‐mannosidosis have variable degrees of intellectual disability but show decline in IQ with age, particularly during the first decade of life. Patients treated with hematopoietic stem cell transplantation tend to show stabilized cognitive abilities.

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“…1150 Allogeneic haematopoietic stem cell or T-cell-depleted peripheral blood stem cell transplantation may halt the progressive cognitive loss and reverse the pattern of urinary oligosaccharides. 1151,1152 Hepatocytes in mannosidosis contain PAS-negative vacuoles in the cytoplasm. Ultrastructurally, the vacuoles are bounded by a single membrane and contain amorphous and occasionally membranous and filamentous material.…”

Section: Mucolipidosis II (I-cell Disease) and Mucolipidosis Iii (Psementioning

confidence: 99%

Developmental and Inherited Liver Disease

Quaglia¹,

Roberts²,

Torbenson³

2018

Macsween's Pathology of the Liver

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Diagnostic approach to histology 113 Neonatal and early infantile liver disease 113 Postneonatal, childhood and adulthood presentation 118 Neonatal hepatitis 119 Histopathological features 120 Biliary atresia 121 Classification and aetiopathogenesis 121 Pathological features at surgical intervention 124 Pathology of intrahepatic changes 126 Paucity of intrahepatic bile ducts 129 Alagille syndrome (arteriohepatic dysplasia) 129 Nonsyndromic duct paucity disorders 131 Bile duct anomalies, congenital dilations and ductal plate malformation disorders 131 Choledochal cyst 132 Hereditary fibropolycystic disease (ductal plate malformation) 133 Cystic fibrosis 141 Hereditary disorders of bile acid synthesis and bilirubin metabolism 143 Primary disorders of bile acid synthesis 143 Disorders of bile canalicular transporters 146 Other diseases causing intrahepatic cholestasis 150 Hereditary defects of bilirubin metabolism 151 Disorders of porphyrin metabolism 153 Porphyria cutanea tarda 154 Erythropoietic protoporphyria 155 Disorders of carbohydrate metabolism and related conditions 156 Glycogen storage diseases (glycogenoses) 156 Myoclonus epilepsy, Lafora type (Lafora disease) 161 Galactosaemia Hereditary fructose intolerance Disorders of glycoprotein and glycolipid metabolism Mucopolysaccharidoses Aspartylglucosaminuria α-Mannosidosis Fucosidosis Mucolipidoses Congenital disorders of glycosylation (carbohydrate-deficient glycoprotein syndrome) Endoplasmic reticulum storage diseases α1-Antitrypsin deficiency α1-Antichymotrypsin deficiency Afibrinogenaemia and hypofibrinogenaemia Antithrombin III deficiency Disorders of amino acid metabolism Hereditary tyrosinaemia type 1 Congenital hyperammonaemia syndromes and urea cycle disorders Cystinosis Homocystinuria (cystathionine β-synthase deficiency) Disorders of lipoprotein and lipid metabolism Abetalipoproteinaemia Familial hypobetalipoproteinaemia Familial high-density lipoprotein deficiency (Tangier disease) Familial hypercholesterolaemia Wolman disease and cholesteryl ester storage disease Gangliosidoses α-Galactosidase A deficiency (Fabry disease) Sulphatide lipidosis (metachromatic leucodystrophy) Chapter 3 Developmental and Inherited Liver Disease

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T-cell-depleted peripheral blood stem cell transplantation for α-mannosidosis

Cited by 17 publications

References 16 publications

Allogeneic hematopoietic SCT for alpha-mannosidosis: an analysis of 17 patients

Allogeneic hematopoietic SCT for alpha-mannosidosis: an analysis of 17 patients

Intellectual functioning in alpha‐mannosidosis

Developmental and Inherited Liver Disease

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