Clinical findings in 12 patients with MPS IV A (Morquio's disease)

Nelson, John W.; Thomas, P. S.

doi:10.1111/j.1399-0004.1988.tb03423.x

Cited by 45 publications

(4 citation statements)

References 6 publications

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“…The brain and spinal cord are not believed to be directly impacted by GAG accumulation in MPS IVA as normal intelligence is preserved (Wraith 1995). However, patients have a high risk of developing neurological complications due to skeletal abnormalities (Nelson and Thomas 1988). …”

Section: Introductionmentioning

confidence: 99%

Clinical overview and treatment options for non‐skeletal manifestations of mucopolysaccharidosis type IVA

Hendriksz

Al-Jawad

Berger

et al. 2012

J of Inher Metab Disea

133

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Mucopolysaccharidosis type IVA (MPS IVA) or Morquio syndrome is a multisystem disorder caused by galactosamine-6-sulfatase deficiency. Skeletal manifestations, including short stature, skeletal dysplasia, cervical instability, and joint destruction, are known to be associated with this condition. Due to the severity of these skeletal manifestations, the non-skeletal manifestations are frequently overlooked despite their significant contribution to disease progression and impact on quality of life. This review provides detailed information regarding the non-skeletal manifestations and suggests long-term assessment guidelines. The visual, auditory, digestive, cardiovascular, and respiratory systems are addressed and overall quality of life as measured by endurance and other functional abilities is discussed. Impairments such as corneal clouding, astigmatism, glaucoma, hearing loss, hernias, hepatomegaly, dental abnormalities, cardiac valve thickening and regurgitation, obstructive sleep apnea, tracheomalacia, restrictive and obstructive respiratory compromise, and muscular weakness are discussed. Increased awareness of these non-skeletal features is needed to improve patient care.Electronic supplementary materialThe online version of this article (doi:10.1007/s10545-012-9459-0) contains supplementary material, which is available to authorized users.

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Section: Introductionmentioning

confidence: 99%

Clinical overview and treatment options for non‐skeletal manifestations of mucopolysaccharidosis type IVA

Hendriksz

Al-Jawad

Berger

et al. 2012

J of Inher Metab Disea

133

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“…Atlantoaxial instability (sometimes termed "occipito-cervical instability") is a common pathology in MPS IV and VI and is accompanied by hypoplasia of the dens and the C1 posterior arch, ligamentous laxity, and extradural accumulation of GAGs [19][20][21]. Impingement between C2 and the C1 posterior arch in flexion/extension may cause irreversible spinal cord damage resulting in sudden death or in respiratory failure with quadriparesis [22].…”

Section: Atlantoaxial Instabilitymentioning

confidence: 99%

Surgical Management of Spinal Disorders in People with Mucopolysaccharidoses

Terai

Nakamura

2020

IJMS

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Mucopolysaccharidoses (MPS) are a group of inherited, multisystem, lysosomal storage disorders involving specific lysosomal enzyme deficiencies that result in the accumulation of glycosaminoglycans (GAG) secondary to insufficient degradation within cell lysosomes. GAG accumulation affects both primary bone formation and secondary bone growth, resulting in growth impairment. Typical spinal manifestations in MPS are atlantoaxial instability, thoracolumbar kyphosis/scoliosis, and cervical/lumbar spinal canal stenosis. Spinal disorders and their severity depend on the MPS type and may be related to disease activity. Enzyme replacement therapy or hematopoietic stem cell transplantation has advantages regarding soft tissues; however, these therapeutic modalities are not effective for bone or cartilage and MPS-related bone deformity including the spine. Because spinal disorders show the most serious deterioration among patients with MPS, spinal surgeries are required although they are challenging and associated with high anesthesia-related risks. The aim of this review article is to provide the current comprehensive knowledge of representative spinal disease in MPS and its surgical management, including the related pathology, symptoms, and examinations.

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“…Ağır formlarında küçük travmalar ile ani solunum durmaları görülebilir. Hastalar, enzim replasmanı yapılmaz ise, ikinci veya üçüncü dekatlarda yürüme fonksiyonlarını kaybetmektedir (7).…”

Section: Olguunclassified

“…Mukopolisakkaridozlar (MPS), enzim eksikliğine bağlı olarak gelişen, genetik geçişli ve toplumda 20000 doğumda bir görülen, lizozomlarda glikozaminoglikan (GAG) depolanması sonucu, vücuttaki çeşitli organlarda hasara yol açan metabolik hastalıklardır (1). Mukopolisakkaridozların etkilenen enzime göre yedi (1)(2)(3)(4)6,7,9) tipi vardır. Ayrıca tip 4 kendi arasında A ve B tiplerine ayrılmaktadır.…”

Section: Introductionunclassified

Mucopolysaccharidosis type 4 (Morquio syndrome): a case report

Şahin¹,

Elevli²,

Kalkan³

2017

Sisli Etfal

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Bir olgu nedeni ile mukopolisakkaridoz tip 4 (Morquio sendromu) Amaç: Mukopolisakkaridozlar, genetik geçişli ve lizozomlarda glikozamino glikan depolanması sonucu vücuttaki çeşitli organlarda hasara yol açan hastalıklardır. Burada nadir görülen bir tür olan Morquio sendromlu bu olguyu konuya dikkat çekmek amacı ile sunmaktayız. Olgu: Onbir yaşındaki erkek hasta, hastanemize boy kısalığı ve kemik bozuklukları nedeni ile başvurdu. Anne baba akraba değildi ve olgumuzun üç sağlıklı küçük kardeşi vardı. Fizik muayenede kaba yüz, hipertelorizm, orantısız boy kısalığı, çarpık bacak, pektus karinatum, kifoskolyoz saptandı. Ördekvari yürüyüşü vardı. Nöromotor gelişimi yaşına uygundu. Kemik grafilerinde kifoskolyoz, iliak kanatlarda parlama, koksa valga, femoral epifizlerde düzleşme, genişlemiş kaburga kemikleri ve dar iliak kanatlar tespit edildi. İdrarda glikozaminoglikan (keratan sülfat) pozitif bulundu. Enzimatik analizde glukoz-6fosfataz düşük bulunarak [15 pmol/mg/saat (n:400-2000)] kesin tanı kondu. Sonuçlar: Morquio sendromunun benzer klinik tabloları olan ve otozomal resesif kalıtılan A ve B tipleri vardır. Tip 4A galactosamine-6-sulfatase (GALNS) enzim eksikliğine bağlı 16q24.3 geni ile kodlanan hastalık iken, Tip 4B beta galaktozidaz eksikliği ile ortaya çıkar. Her iki tip hastalıkta da, keratan sülfat ve kondrotin 6 sülfat birikmektedir. Bizim olgumuzda da bulgular 1 yaş civarında belirginleşmiş ve giderek ilerlemiştir. Zeka problemi olmayan hastamızın, dizostozis multipleks olarak adlandırılan kemik radyolojik bulguları tipiktir. Enzim replasman tedavisinin yürüme fonksiyonunu kaybetmeden başlanması önemlidir.

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Clinical findings in 12 patients with MPS IV A (Morquio's disease)

Cited by 45 publications

References 6 publications

Clinical overview and treatment options for non‐skeletal manifestations of mucopolysaccharidosis type IVA

Clinical overview and treatment options for non‐skeletal manifestations of mucopolysaccharidosis type IVA

Surgical Management of Spinal Disorders in People with Mucopolysaccharidoses

Mucopolysaccharidosis type 4 (Morquio syndrome): a case report

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