Lysosomal storage disorders in Indian children with neuroregression attending a genetic center

Sheth, Jayesh; Mistri, Mehul; Bhavsar, Riddhi; Sheth, Frenny; Kamate, Mahesh; Shah, Heli; Datar, Chaitanya

doi:10.1007/s13312-015-0768-x

Cited by 15 publications

(11 citation statements)

References 22 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The pseudogene ( I2S2/IDSP1 ) located on the telomeric side of IDS undergoes homologous recombination leading to large complex genomic/genetic rearrangements which comprise about ∼13% of mutations . The mutation spectrum data for MPS I and MPS II disorders in Indian population are not yet characterized even though there are few studies available on biochemical screening and diagnosis of LSDs from different regions of India . This is the first study which furnishes detailed information on molecular analysis of MPS I and MPS II disorders in the Indian population.…”

mentioning

confidence: 99%

Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II

et al. 2016

View full text Add to dashboard Cite

Mucopolysaccharidoses (MPS), a subgroup of lysosomal storage disorders, are caused due to deficiency of specific lysosomal enzyme involved in catabolism of glycosaminoglycans. To date more than 200 pathogenic variants in the alpha-l-iduronidase (IDUA) for MPS I and ∼500 pathogenic variants in the iduronate-2-sulphatase (IDS) for MPS II have been reported worldwide. The mutation spectrum of MPS type I and MPS type II disorders in Indian population is not characterized yet. In this study, we carried out clinical, biochemical, molecular and in silico analyses to establish the mutation spectrum of MPS I and MPS II in the Indian population. We conducted molecular analysis for 60 MPS-affected patients [MPS I (n = 30) (Hurler syndrome = 17, Hurler-Scheie syndrome = 13), and MPS II (n = 30) (severe = 18, attenuated = 12)] and identified a total of 44 [MPS I (n = 22) and MPS II (n = 22)] different pathogenic variants comprising missense, nonsense, frameshift, gross deletions and splice site variants. A total of 20 [MPS I (n = 14), and MPS II (n = 6)] novel pathogenic sequence variants were identified in our patient cohort. We found that 32% of pathogenic variants detected in IDUA were recurrent and 25% in MPS II. This is the first study revealing the mutation spectrum of MPS I and MPS II patients in the Indian population.

show abstract

mentioning

confidence: 99%

Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II

et al. 2016

View full text Add to dashboard Cite

show abstract

“…Neuroregression in childhood could either be due to genetic causes with neurometabolic origin or non-genetic causes such as infections and toxins. LSDs are one of the causes of neuroregression in children 12 3.…”

Section: Discussionmentioning

confidence: 99%

Tay-Sachs disease: a novel mutation from India

et al. 2018

View full text Add to dashboard Cite

Lysosomal storage disorders or lipidoses are a wide spectrum of inherited diseases caused by deficiency of a specific lysosomal hydrolase. About 134 mutations have been described so far and this number is gradually increasing with newer mutations being reported. We report a 28-month-old child who presented to us with neurodevelopment regression, seizures and cherry red spot in both eyes. His hexosaminidase A enzyme activity was reduced and genetic testing revealed a homozygous novel variation in HEXA (hexosaminidase A) gene in the DNA sample of the patient.

show abstract

“…[ 3 ] Although individual disorder is rare but collectively group of LSD have a frequency of 1 in 5000 live births worldwide. [ 4 5 ] The most common LSD among known LSDs is Gaucher disease (GD), Mucopolysaccharidosis (MPS), Pompe disease, Niemann-pick disease, and Gangliosidosis. [ 4 ]…”

Section: Introductionmentioning

confidence: 99%

“…[ 4 5 ] The most common LSD among known LSDs is Gaucher disease (GD), Mucopolysaccharidosis (MPS), Pompe disease, Niemann-pick disease, and Gangliosidosis. [ 4 ]…”

Section: Introductionmentioning

confidence: 99%

Lysosomal Storage Disorders

Goyal

Gupta

2021

Annals of Indian Academy of Neurology

View full text Add to dashboard Cite

Introduction: Lysosomal storage disorders (LSDs) are a heterogeneous group of large molecule inborn errors of metabolism, rather commonly seen by clinician. Objectives: This study aims to highlight the more common type of LSDs, their frequency, clinical spectrum and outcome from Rare disease centre in Rajasthan. Methods: The retrospective data were collected including clinical profile, investigations, screening test and enzyme analysis results. All outcomes were recorded from follow-up clinic. Results: This cohort comprised 65 children with different type of LSDs including 54 males and 11 females. The average age of presentation of the LSD patients was 3.5 years (range 6 months to 13 years). Gaucher disease was the most commonly found LSD (46.1%) followed by mucopolysaccharidosis (35.3%). Common presentations among GD patients were anemia, thrombocytopenia, and abdominal distension due to splenohepatomegaly/hepatomegaly. Among MPS Disorder, MPS type 2 (Hunter syndrome) was the most common (39.1%), followed by MPS type 1(Hurler syndrome) (30%) and MPS type IVA (Morquio syndrome) (17.3%). Non GD non MPS group comprised most commonly of GM1 gangliosidosis followed by pompe disease, Metachromatic Leucodystrophy, Mucolipidosis type II (I cell disease), and Sandhoff disease. Conclusions: LSDs comprises an important group of genetic metabolic disorders. Among these GD are the most common, followed by MPS.

show abstract

Lysosomal storage disorders in Indian children with neuroregression attending a genetic center

Abstract: Lysosomal storage disorders are considered to be one of the common causes in children with regression in learned skill, dysmorphic features and cherry red spot. Among these, glycolipid storage disorders are the most common, followed by mucopolysaccharidosis.

Cited by 15 publications

References 22 publications

Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II

Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II

Tay-Sachs disease: a novel mutation from India

Lysosomal Storage Disorders

Contact Info

Product

Resources

About