Metabolic cardiomyopathy in GM1 gangliosidosis: Worse prognosis factor?

Mapping Intimacies ◽

10.32512/jmr.4.1.2021/7.9 ◽

2021 ◽

pp. 7-9

Keyword(s):

Lysosomal Storage Disorder ◽

Autosomal Recessive ◽

Early Death ◽

Neurological Deterioration ◽

Gm1 Ganglioside ◽

Lysosomal Storage ◽

Prognosis Factor ◽

Gm1 Gangliosidosis ◽

Worse Prognosis ◽

Galactosyl Residues

GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder due to deficiency of the β-galactosidase enzyme which hydrolyzes the terminal β-galactosyl residues from GM1 ganglioside, glycoproteins, and glycosaminoglycans. Patients with infantile GM1 gangliosidosis present at birth or shortly thereafter with visceral changes and severe neurological deterioration leading to early death. In this report, we presented a case of infantile GM1 gangliosidosis associated with multiple organomegaly.

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Identification of a novel homozygous loss-of-function mutation in FUCA1 gene causing severe fucosidosis: A case report

Journal of International Medical Research ◽

10.1177/03000605211005975 ◽

2021 ◽

Vol 49 (4) ◽

pp. 030006052110059

Author(s):

Xinwen Zhang ◽

Shaozhi Zhao ◽

Hongwei Liu ◽

Xiaoyan Wang ◽

Xiaolei Wang ◽

...

Keyword(s):

Amino Acids ◽

Lysosomal Storage Disorder ◽

Autosomal Recessive ◽

Signs And Symptoms ◽

Lysosomal Storage ◽

Loss Of Function ◽

Wild Type ◽

Single Nucleotide ◽

Whole Exome ◽

Exon 1

Fucosidosis is a rare lysosomal storage disorder characterized by deficiency of α-L-fucosidase with an autosomal recessive mode of inheritance. Here, we describe a 4-year-old Chinese boy with signs and symptoms of fucosidosis but his parents were phenotypically normal. Whole exome sequencing (WES) identified a novel homozygous single nucleotide deletion (c.82delG) in the exon 1 of the FUCA1 gene. This mutation will lead to a frameshift which will result in the formation of a truncated FUCA1 protein (p.Val28Cysfs*105) of 132 amino acids approximately one-third the size of the wild type FUCA1 protein (466 amino acids). Both parents were carrying the mutation in a heterozygous state. This study expands the mutational spectrum of the FUCA1 gene associated with fucosidosis and emphasises the benefits of WES for accurate and timely clinical diagnosis of this rare disease.

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Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum

Case Reports in Pediatrics ◽

10.1155/2018/4375434 ◽

2018 ◽

Vol 2018 ◽

pp. 1-5

Author(s):

Marco Antonio Curiati ◽

Sandra Obikawa Kyosen ◽

Vanessa Gonçalves Pereira ◽

Francy Reis da Silva Patrício ◽

Ana Maria Martins

Keyword(s):

Medical Records ◽

Lysosomal Storage Disorder ◽

Autosomal Recessive ◽

Organ Damage ◽

Clinical Spectrum ◽

Retrospective Data ◽

Lysosomal Storage ◽

Acid Lipase ◽

Lysosomal Acid ◽

Lysosomal Acid Lipase

Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality. We present retrospective data from medical records of 5 Brazilian patients, showing the broad clinical spectrum of the disease.

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Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in the pre-Columbian culture of Colombia

Colombia Medica ◽

10.25100/cm.v45i2.1441 ◽

2014 ◽

pp. 85-88 ◽

Cited By ~ 3

Author(s):

Harry Pachajoa ◽

Carlos Armando Rodriguez

Keyword(s):

Lysosomal Storage Disorder ◽

Autosomal Recessive ◽

Pacific Coast ◽

Facial Dysmorphism ◽

Mucopolysaccharidosis Type ◽

Lysosomal Storage ◽

Dysostosis Multiplex ◽

Mucopolysaccharidosis Type Vi ◽

Corneal Clouding ◽

Arylsulfatase B

Mucopolysaccharidosis type VI or Maroteaux Lamy syndrome is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B, the clinical features include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism, with intelligence usually normal. We present evidence of the possible existence of Maroteaux Lamy syndrome in pre-Columbian pottery 2000 years ago, in the Colombo Ecuadorian Pacific coast of the Tumaco-Tolita culture.

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LEUKOCYTE BETA-GALACTOSIDASE ACTIVITY IN THE DIAGNOSIS OF GENERALIZED GM, GANGLIOSIDOSIS

PEDIATRICS ◽

10.1542/peds.49.3.352 ◽

1972 ◽

Vol 49 (3) ◽

pp. 352-361

Author(s):

Harvey S. Singer ◽

George A. Nankervis ◽

Irwin A. Schafer

Keyword(s):

Enzyme Activity ◽

Autosomal Recessive ◽

Gm1 Ganglioside ◽

Galactosidase Activity ◽

Inherited Disease ◽

Gm1 Gangliosidosis ◽

Storage Diseases ◽

Beta Galactosidase ◽

Normal Controls ◽

Test Tissue

GM1 generalized gangliosidosis is an autosomal recessive inherited disease, characterized by the storage of GM1 ganglioside in brain and visceral tissues secondary to a deficiency of the enzyme β-galactosidase. The enzyme deficiency found in brain, liver, and cultured flbroblasts is also present in the leukocyte. Using leukocytes as the test tissue two GM1 gangliosidosis putients were clearly identified from patients with clinically similar storage diseases. The enzyme activity in obligate heterozygotes showed intermediate levels between their affected children and normal controls, suggesting that heterozygotes may be identified using the leukocyte as the test tissue.

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TYPE 2 GAUCHER DISEASE: ONSET AND EVOLUTION – CASE REPORT

Romanian Journal of Pediatrics ◽

10.37897/rjp.2015.3.12 ◽

2015 ◽

Vol 64 (3) ◽

pp. 293-296

Author(s):

Violeta Streanga ◽

◽

Cristina Jitareanu ◽

Irina M. Ciomaga ◽

Doina Mihaila ◽

...

Keyword(s):

Enzyme Activity ◽

Gaucher Disease ◽

Lysosomal Storage Disorder ◽

Autosomal Recessive ◽

Disease Onset ◽

Lysosomal Storage ◽

Subsequent Evolution ◽

Dismal Prognosis ◽

Recessive Transmission

Gaucher disease is the most common lysosomal storage disorder, with autosomal recessive transmission. The disease is due to glucocerebrosidase enzyme deficiency, resulting in accumulation of glucocerebroside in all organs. The diagnosis is established by measuring enzyme activity. Among the clinical forms, type 2 is the rarest and has the most dismal prognosis. We present the case of an infant found at 5 months of age with neurological symptoms and his subsequent evolution with massive hepatosplenomegaly, being diagnosed with type 2 Gaucher disease.

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Tay-Sachs Disease: A Rare Storage Disorder in Children

International Journal of Health Sciences and Research ◽

10.52403/ijhsr.20210728 ◽

2021 ◽

Vol 11 (7) ◽

pp. 194-196

Author(s):

Sunil Kumar Agarwalla ◽

Laxmipriya Tudu ◽

Arpita Jalan

Keyword(s):

Lysosomal Storage Disorder ◽

Autosomal Recessive ◽

Marked Decrease ◽

Lysosomal Storage ◽

Enzyme Replacement ◽

Developmental Regression ◽

Tay Sachs Disease ◽

Hexosaminidase A ◽

Cherry Red Spot ◽

Storage Disorder

Tay-Sachs disease is an autosomal recessive lysosomal storage disorder cause by deficiency of enzyme Beta Hexosaminidase A and leading to accumulation of GM2 gangliosides mainly in CNS, results in progressive loss of neurological functions. We report a case of 14 month old male child presented to us with neuro-developmental regression, convulsions and bilateral cherry red spot on funduscopy. The diagnosis of Tay-Sachs disease was made by marked decrease level of enzyme Hexosaminidase A. Key words: Lysosomal storage disorder, GM2 gangliosides, neuro- regression, cherry red spot, Enzyme replacement therapy.

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Isolation and characterization of major urinary amino acid O-glycosides and a dipeptide O-glycoside from a new lysosomal storage disorder (Kanzaki disease). Excessive excretion of serine- and threonine-linked glycan in the patient urine.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(19)40072-0 ◽

1990 ◽

Vol 265 (3) ◽

pp. 1693-1701

Author(s):

Y Hirabayashi ◽

Y Matsumoto ◽

M Matsumoto ◽

T Toida ◽

N Iida ◽

...

Keyword(s):

Amino Acid ◽

Lysosomal Storage Disorder ◽

Lysosomal Storage ◽

Isolation And Characterization ◽

Storage Disorder ◽

Urinary Amino

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Dwarfism in Tibetan Terrier dogs with an LHX3 mutation

Journal of Veterinary Diagnostic Investigation ◽

10.1177/10406387211007526 ◽

2021 ◽

pp. 104063872110075

Author(s):

Tuddow Thaiwong ◽

Sarah Corner ◽

Stacey La Forge ◽

Matti Kiupel

Keyword(s):

Hair Loss ◽

Autosomal Recessive ◽

Early Death ◽

Deletion Mutation ◽

Recessive Trait ◽

Autosomal Recessive Trait ◽

German Shepherd ◽

Hair Coat ◽

Pituitary Dwarfism ◽

Autosomal Recessive Manner

Canine pituitary dwarfism in German Shepherd and related dog breeds has been reported to be associated with a 7-bp deletion mutation in intron 5 of the LHX3 gene. This mutation is transmitted as an autosomal recessive trait that results in dwarf dogs with significantly smaller stature and abnormal haircoat, and potentially early death. Phenotypically, affected adult dogs are proportionally dwarfs. These dwarfs also have a soft, woolly puppy coat that fails to transition into the typical adult hair coat, and marked hair loss occurs in some dogs. We report a similar manifestation of dwarfism in Tibetan Terriers with the same LHX3 mutation. Dwarf Tibetan Terrier puppies were born physically normal but failed to gain weight or to grow at the same rate as their normal littermates. The 7-bp deletion mutation of the LHX3 gene was identified in both alleles of 3 Tibetan Terrier dwarfs from 3 litters, which were biologically related. All parents of these dogs are carriers, confirming transmission of dwarfism in an autosomal recessive manner. Recognition and detection of this mutation will help in guiding future breeding plans to eventually eliminate this trait from Tibetan Terriers.

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