scholarly journals Lysosomal Storage Disease

2009 ◽  
Vol 48 (175) ◽  
Author(s):  
Binod Khatiwada ◽  
A Pokharel
Keyword(s):  
Lysosomal Storage Disease ◽  
Lysosomal Enzyme ◽  
Enzyme Assay ◽  
Storage Disease ◽  
Lysosomal Storage ◽  
Gm1 Gangliosidosis ◽  
Poor Vision ◽  
Gradual Onset ◽  
History Of ◽  
Beta Galactosidase

We report a case of lysosomal storage disease diagnosed by lysosomal enzyme assay in a two year oldboy with a history of gradual onset of weakness of body, poor vision, fl accid neck and spasticity in allfour limbs with hyper-refl exia. On fundus examination cherry red spots were noted at macula. Onperforming lysosomal enzyme assay, beta-galactosidase level was considerably low. This indicatesthat the child is affected by lysosomal storage disease most likely GM1 gangliosidosis. The diagnosisis important because the disease is rare and it may be missed as the symptoms are similar to otherneurological conditions and the diagnosis can help with future conception.Key Words: beta-galactosidase, GM1 gangliosidosis, lysosomal storage disease

scholarly journals Anderson-Fabry Disease in Females

2015 ◽  
Vol 12 (1) ◽  
pp. 20-26 ◽  
Author(s):  
Petar Kes ◽  
Vesna Furic-Curko ◽  
Nikolina Basic-Jukic
Keyword(s):  
Fabry Disease ◽  
Lysosomal Storage Disease ◽  
Lysosomal Enzyme ◽  
Storage Disease ◽  
Signs And Symptoms ◽  
Organ Damage ◽  
Enzyme Deficiency ◽  
Diagnostic Approach ◽  
Lysosomal Storage ◽  
Globotriaosyl Ceramide

AbstractAnderson-Fabry disease (AFD) is the second most common lysosomal storage disease. This is an X-linked disorder due to lysosomal enzyme deficiency of a-galac-tosidasae A, that results in accumulation of globotriaosyl-ceramide in various tissues leading to organ damage, and resulting in a variety of cardiovascular, renal, neural, der-matological, psychological signs and symptoms. Despite being X-linked, heterozygous females can suffer from symptoms equally severe as male hemizygotes. This paper presents signs, symptoms, specific diagnostic approach and treatment possibilities of AFD in female patients.

Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis

2018 ◽  
Vol 40 (5) ◽  
pp. 383-390 ◽  
Author(s):  
Jin Sook Lee ◽  
Jong-Moon Choi ◽  
Moses Lee ◽  
Soo Yeon Kim ◽  
Sangmoon Lee ◽  
...  
Keyword(s):  
Lysosomal Storage Disease ◽  
Storage Disease ◽  
Lysosomal Storage ◽  
Diagnostic Challenge ◽  
Gm1 Gangliosidosis

scholarly journals Positioning Head Tilt in Canine Lysosomal Storage Disease: A Retrospective Observational Descriptive Study

2021 ◽  
Vol 8 ◽  
Author(s):  
Shinji Tamura ◽  
Yumiko Tamura ◽  
Yuya Nakamoto ◽  
Daisuke Hasegawa ◽  
Masaya Tsuboi ◽  
...  
Keyword(s):  
Lysosomal Storage Disease ◽  
Storage Disease ◽  
Neuronal Degeneration ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Clinical Signs ◽  
Head Tilt ◽  
Vestibular Nuclei ◽  
Lysosomal Storage ◽  
Gm2 Gangliosidosis ◽  
Gm1 Gangliosidosis

Positioning head tilt is a neurological sign that has recently been described in dogs with congenital cerebellar malformations. This head tilt is triggered in response to head movement and is believed to be caused by a lack of inhibition of the vestibular nuclei by the cerebellar nodulus and ventral uvula (NU), as originally reported cases were dogs with NU hypoplasia. We hypothesized that other diseases, such as lysosomal storage diseases that cause degeneration in the whole brain, including NU, may cause NU dysfunction and positioning head tilt. Videos of the clinical signs of canine lysosomal storage disease were retrospectively evaluated. In addition, post-mortem NU specimens from each dog were histopathologically evaluated. Nine dogs were included, five with lysosomal storage disease, two Chihuahuas with neuronal ceroid lipofuscinosis (NCL), two Border Collies with NCL, one Shikoku Inu with NCL, two Toy Poodles with GM2 gangliosidosis, and two Shiba Inus with GM1 gangliosidosis. Twenty-eight videos recorded the clinical signs of the dogs. In these videos, positioning head tilt was observed in seven of nine dogs, two Chihuahuas with NCL, one Border Collie with NCL, one Shikoku Inu with NCL, one Toy Poodle with GM2 gangliosidosis, and two Shiba Inus with GM1 gangliosidosis. Neuronal degeneration and loss of NU were histopathologically confirmed in all diseases. As positioning head tilt had not been described until 2016, it may have been overlooked and may be a common clinical sign and pathophysiology in dogs with NU dysfunction.

Multiple suture synostosis, macrocephaly, and intracranial hypertension in a child with α-d-mannosidase deficiency

1995 ◽  
Vol 82 (4) ◽  
pp. 647-649 ◽  
Author(s):  
Paul A. Grabb ◽  
A. Leland Albright ◽  
Basil J. Zitelli
Keyword(s):  
Lysosomal Storage Disease ◽  
Unusual Case ◽  
Storage Disease ◽  
Lysosomal Storage ◽  
Increased Intracranial Pressure ◽  
Opening Pressure ◽  
Content Type ◽  
History Of ◽  
Skull Radiographs ◽  
Fine Print

✓ The authors present an unusual case in which increased intracranial pressure developed because of multiple-suture craniosynostosis and megaloencephaly in a child with a previously undiagnosed lysosomal storage disease, α-d-mannosidase deficiency. This 3-year-old boy presented with a history of frequent naps, headaches, florid papilledema, enlarged head (> 95th percentile), elevated opening pressure by lumbar puncture, a “beaten copper” appearance on skull radiographs, and no hydrocephalus. Multiple synostectomies were performed. Postoperatively, the child's headaches and papilledema resolved and his level of physical activity increased dramatically. The authors discuss the paradoxical presentation of prematurely fused sutures and macrocrania in light of this lysosomal storage disease and its subsequent management.

scholarly journals Intermittent enzyme replacement therapy with recombinant human β-galactosidase prevents neuraminidase 1 deficiency

2020 ◽  
Vol 295 (39) ◽  
pp. 13556-13569 ◽  
Author(s):  
Amanda R. Luu ◽  
Cara Wong ◽  
Vishal Agrawal ◽  
Nathan Wise ◽  
Britta Handyside ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Lysosomal Storage Disease ◽  
Storage Disease ◽  
Activity Levels ◽  
Multienzyme Complex ◽  
Lysosomal Storage ◽  
Gm1 Gangliosidosis ◽  
Enzyme Replacement ◽  
Clinical Onset

Mutations in the galactosidase β 1 (GLB1) gene cause lysosomal β-galactosidase (β-Gal) deficiency and clinical onset of the neurodegenerative lysosomal storage disease, GM1 gangliosidosis. β-Gal and neuraminidase 1 (NEU1) form a multienzyme complex in lysosomes along with the molecular chaperone, protective protein cathepsin A (PPCA). NEU1 is deficient in the neurodegenerative lysosomal storage disease sialidosis, and its targeting to and stability in lysosomes strictly depend on PPCA. In contrast, β-Gal only partially depends on PPCA, prompting us to investigate the role that β-Gal plays in the multienzyme complex. Here, we demonstrate that β-Gal negatively regulates NEU1 levels in lysosomes by competitively displacing this labile sialidase from PPCA. Chronic cellular uptake of purified recombinant human β-Gal (rhβ-Gal) or chronic lentiviral-mediated GLB1 overexpression in GM1 gangliosidosis patient fibroblasts coincides with profound secondary NEU1 deficiency. A regimen of intermittent enzyme replacement therapy dosing with rhβ-Gal, followed by enzyme withdrawal, is sufficient to augment β-Gal activity levels in GM1 gangliosidosis patient fibroblasts without promoting NEU1 deficiency. In the absence of β-Gal, NEU1 levels are elevated in the GM1 gangliosidosis mouse brain, which are restored to normal levels following weekly intracerebroventricular dosing with rhβ-Gal. Collectively, our results highlight the need to carefully titrate the dose and dosing frequency of β-Gal augmentation therapy for GM1 gangliosidosis. They further suggest that intermittent intracerebroventricular enzyme replacement therapy dosing with rhβ-Gal is a tunable approach that can safely augment β-Gal levels while maintaining NEU1 at physiological levels in the GM1 gangliosidosis brain.

scholarly journals Deficiency of α-mannosidase in Angus cattle. An inherited lysosomal storage disease

1972 ◽  
Vol 128 (1) ◽  
pp. 69-78 ◽  
Author(s):  
J. D. Hocking ◽  
R. D. Jolly ◽  
R. D. Batt
Keyword(s):  
Lysosomal Storage Disease ◽  
Lysosomal Enzyme ◽  
Human Disease ◽  
Storage Disease ◽  
Lysosomal Storage ◽  
Angus Cattle ◽  
Partial Deficiency

A disease of Angus cattle previously known as pseudolipidosis has been shown to be an inherited lysosomal storage disease, in which an oligosaccharide containing mannose and glucosamine is the storage substance. Diseased animals have a near-absolute deficiency of the lysosomal enzyme, α-mannosidase, whereas heterozygotes have a partial deficiency of this enzyme. The condition is analogous to the human disease known as mannosidosis.

Sign in / Sign up

Export Citation Format

Share Document