scholarly journals Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant

2021 ◽  
Vol 27 ◽  
pp. 100747
Author(s):  
Parith Wongkittichote ◽  
Garland Michael Upchurch ◽  
Louis P. Dehner ◽  
Timothy Wood ◽  
Jorge L. Granadillo
Keyword(s):  
Secondary Hyperparathyroidism ◽  
Premature Infant ◽  
Type Ii ◽  
Placental Pathology ◽  
Mucolipidosis Type

scholarly journals Biopsychosocial issues of a patient with mucolipidosis type II

2014 ◽  
Vol 26 (1) ◽  
pp. 52-53
Author(s):  
Chin-Chen Wen ◽  
Chun-Ying Weng ◽  
Meei-Ju Lin ◽  
Shao-Yin Chu
Keyword(s):  
Type Ii ◽  
Mucolipidosis Type

Clinico-radiological and biochemical clues to early diagnosis of mucolipidosis type II

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Sapna Sandal ◽  
Sunita Bijarnia Mahay ◽  
Deepti Gupta ◽  
Renu Saxena ◽  
Jyotsna Verma ◽  
...  
Keyword(s):  
Early Diagnosis ◽  
Type Ii ◽  
Mucolipidosis Type

scholarly journals Hip Morphology in Mucolipidosis Type II

2020 ◽  
Vol 9 (3) ◽  
pp. 728 ◽  
Author(s):  
Luise Sophie Ammer ◽  
Esmeralda Oussoren ◽  
Nicole Maria Muschol ◽  
Sandra Pohl ◽  
Maria Estela Rubio-Gozalbo ◽  
...  
Keyword(s):  
Retrospective Chart Review ◽  
Systematic Evaluation ◽  
Type Ii ◽  
Lysosomal Storage ◽  
Pelvic Radiograph ◽  
Hip Morphology ◽  
Age Dependent ◽  
Magnetic Resonance Imaging Mri ◽  
And Migration ◽  
Mucolipidosis Type

Mucolipidosis type II (MLII) is a rare lysosomal storage disorder caused by defective trafficking of lysosomal enzymes. Severe skeletal manifestations are a hallmark of the disease including hip dysplasia. This study aims to describe hip morphology and the natural course of hip pathologies in MLII by systematic evaluation of plain radiographs, ultrasounds and magnetic resonance imaging (MRI). An international two-centered study was performed by retrospective chart review. All MLII patients with at least one pelvic radiograph were included. A total of 16 patients were followed over a mean of 3.5 years (range 0.2–10.7 years). Typical age-dependent radiographic signs identified were femoral cloaking (7/16), rickets/hyperparathyroidism-like changes (6/16) and constrictions of the supra-acetabular part of the os ilium (16/16) and the femoral neck (7/16). The course of acetabular and migration indexes (AI, MI) significantly increased in female patients. However, in the overall group, there was no relevant progression of acetabular dysplasia with a mean AI of 23.0 (range 5°–41°) and 23.7° (range 5°–40°) at the first and last assessments, respectively. Better knowledge on hip morphology in MLII could lead to earlier diagnosis, improved clinical management and enables assessment of effects of upcoming therapies on the skeletal system.

Mucolipidosis type II with evidence of a novel storage site

1998 ◽  
Vol 433 (6) ◽  
pp. 575-578 ◽  
Author(s):  
M. Elleder ◽  
J. J. Martin
Keyword(s):  
Storage Site ◽  
Type Ii ◽  
Mucolipidosis Type

Ocular Findings in I-Cell Disease (Mucolipidosis Type II)

1977 ◽  
Vol 83 (5) ◽  
pp. 617-628 ◽  
Author(s):  
Jacques Libert ◽  
Françcois Van Hoof ◽  
Jean-Pierre Farriaux ◽  
Daniel Toussaint
Keyword(s):  
Type Ii ◽  
Cell Disease ◽  
Ocular Findings ◽  
Mucolipidosis Type

scholarly journals Vacuolization of mucolipidosis type II mouse exocrine gland cells represents accumulation of autolysosomes

2011 ◽  
Vol 22 (8) ◽  
pp. 1135-1147 ◽  
Author(s):  
Marielle Boonen ◽  
Eline van Meel ◽  
Viola Oorschot ◽  
Judith Klumperman ◽  
Stuart Kornfeld
Keyword(s):  
Secretory Granules ◽  
Exocrine Gland ◽  
Exocrine Glands ◽  
Type Ii ◽  
Acid Hydrolases ◽  
Gland Cells ◽  
Cytoplasmic Material ◽  
Lysosomal Sorting ◽  
Cell Type Specific ◽  
Mucolipidosis Type

We previously reported that mice deficient in UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase (mucolipidosis type II or Gnptab −/− mice), the enzyme that initiates the addition of the mannose 6-phosphate lysosomal sorting signal on acid hydrolases, exhibited extensive vacuolization of their exocrine gland cells, while the liver, brain, and muscle appeared grossly unaffected. Similar pathological findings were observed in several exocrine glands of patients with mucolipidosis II. To understand the basis for this cell type–specific abnormality, we analyzed these tissues in Gnptab −/− mice using a combined immunoelectron microscopy and biochemical approach. We demonstrate that the vacuoles in the exocrine glands are enlarged autolysosomes containing undigested cytoplasmic material that accumulate secondary to deficient lysosomal function. Surprisingly, the acid hydrolase levels in these tissues ranged from normal to modestly decreased, in contrast to skin fibroblasts, which accumulate enlarged lysosomes and/or autolysosomes also but exhibit very low levels of acid hydrolases. We propose that the lysosomal defect in the exocrine cells is caused by the combination of increased secretion of the acid hydrolases via the constitutive pathway along with their entrapment in secretory granules. Taken together, our results provide new insights into the mechanisms of the tissue-specific abnormalities seen in mucolipidosis type II.

scholarly journals Mucolipidosis type II secondary to GNPTAB gene deletion from India

2017 ◽  
Vol 12 (1) ◽  
pp. 115 ◽  
Author(s):  
VykuntarajuK Gowda ◽  
VarunV Raghavan ◽  
Meenakshi Bhat ◽  
Asha Benakappa
Keyword(s):  
Gene Deletion ◽  
Type Ii ◽  
Mucolipidosis Type

Molecular analysis of theGNPTABandGNPTGgenes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations

2009 ◽  
Vol 76 (1) ◽  
pp. 76-84 ◽  
Author(s):  
M Encarnação ◽  
L Lacerda ◽  
R Costa ◽  
MJ Prata ◽  
MF Coutinho ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Type Ii ◽  
Novel Mutations ◽  
Type Iii ◽  
Mucolipidosis Type
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