mucolipidosis

(redirected from Mucolipidoses)

mucolipidosis

 [mu″ko-lip″ĭ-do´sis] (pl. mucolipido´ses)
any of a group of genetic disorders in which both glycosaminoglycans (GAGs) and lipids accumulate in tissues, but without excess of GAG in the urine.
mucolipidosis I sialidosis (type I).
mucolipidosis II a rapidly progressing disease of young children, histologically characterized by abnormal fibroblasts containing a large number of dark inclusions which fill the central part of the cytoplasm except for the juxtanuclear zone (I-cells), and clinically by severe growth impairment, minimal hepatic enlargement, extreme mental and motor retardation, and clear corneas; inherited as an autosomal recessive trait, it is due to deficiency of multiple lysosomal hydrolases. Called also I-cell disease.
mucolipidosis III a disorder similar to but milder than mucolipidosis II, and thought to be due to the same enzyme deficiency but to a lesser extent. Called also pseudo-Hurler polydystrophy.
mucolipidosis IV a form marked by early corneal clouding, psychomotor retardation, and the presence of lysosomal storage bodies; thought to be transmitted as an autosomal recessive trait.

mu·co·lip·i·do·sis

, pl.

mu·co·lip·i·do·ses

(myū'kō-lip-i-dō'sis, -sēz),
Any of a group of lysosomal storage diseases in which symptoms of visceral and mesenchymal mucopolysaccharide, glycoprotein, oligosaccharide, or glycolipid storage are present; clinically, they bear a superficial resemblance to the mucopolysaccharidoses; autosomal recessive inheritance.
[muco- + lipid + -osis, condition]

mucolipidosis

(myo͞o′kō-lĭp′ĭ-dō′sĭs)
n.
Any of a several progressive genetic diseases in which glycosaminoglycans and lipids accumulate in the tissues (without excretion of glycosaminoglycans in the urine), usually appearing in infancy or early childhood and resulting in symptoms of varied severity, often including musculoskeletal abnormalties and intellectual disability.

mucolipidosis

Any of 4 AR lysosomal storage diseases characterized by accumulation of glycolipids in interstitial tissues, which have clinical features similar to the mucopolysaccharidoses

mu·co·lip·i·do·sis

, pl. mucolipidoses (myū'kō-lip-i-dō'sis, -sēz)
Any of a group of lysosomal storage diseases in which symptoms of visceral and mesenchymal mucopolysaccharide, glycoprotein, oligosaccharide, or glycolipid storage are present.
[muco- + lipid + -osis, condition]

mu·co·lip·i·do·sis

, pl. mucolipidoses (myū'kō-lip-i-dō'sis, -sēz)
A lysosomal storage disease in which symptoms of visceral and mesenchymal mucopolysaccharide, glycoprotein, oligosaccharide, or glycolipid storage are present.
[muco- + lipid + -osis, condition]
References in periodicals archive ?
(5) studied a group of 48 patients with mucopolysaccharidoses and mucolipidoses. This research, led to the development of a standard system for the assessment of hand dysfunction.
Carpal tunnel syndrome in the mucopolysaccharidoses and mucolipidoses. J Bone Joint Surg Br.
Pitt, "Carpal tunnel syndrome in the mucopolysaccharidoses and mucolipidoses," Journal of Bone and Joint Surgery--Series B, vol.
(4) Diagnosis and typing of the mucolipidoses are performed by identifying specific enzyme level disparities between serum and cell extracts from cultured fibroblasts as well as through mutation analysis of the GNPTAB and GNPTG genes.
Broad categories include MPS, [GM.sub.2] gangliosidoses, neutral glycosphingolipidoses, glycoproteinoses, mucolipidoses, leukodystrophies, glycogen storage diseases, disorders of neutral lipids, and disorders of protein transport or trafficking (22, 23).
Osteochondrodysplasias, Dysostoses, Chromosomal Aberrations, Mucopolysacchridoses, and Mucolipidoses. Ch 74 In: Resnick D, ed.
Palmdale, CA 93551 (805) 267-2570 (voice/fax) * lorit@netport.com http://www.wincom.net/moe bius 1,2,3,6,8,9 MONOSOMY X See: Turner Syndrome MORQUIO SYNDROME See: Mucopolysaccharidosis; Tay-Sachs Disease MORVAN DISEASE See: Syringomyelia MOTOR-SENSORY NEUROPATHY, HEREDITARY See: Charcot-Marie-Tooth Disease MOYAMOYA DISEASE See: Stroke; Vascular Malformations MUCOLIPIDOSES See: Mucopolysaccharidosis; Mucolipidosis Type IV; Tay-Sachs Disease MUCOLIPIDOSIS TYPE IV See also: Mucopolysaccharidosis; Tay-Sachs Disease; Visual Impairments ML4 Foundation 719 East 17th St.
This characteristic has not been described in other mucolipidoses or in the related mucopolysachharidoses and is thus an excellent diagnostic clue.
Palmdale, CA 93551 (805) 267-2570 (voice/fax) ??lorit@netport.com http://www.wincom.net/moebi us/ 1,2,3,6,8,9 MONOSOMY X See: Turner Syndrome MORQUIO SYNDROME See: Mucopolysaccharidosis; Tay-Sachs Disease MORVAN DISEASE See: Syringomyelia MOTOR-SENSORY NEUROPATHY, HEREDITARY See: Charcot-Marie-Tooth Disease MOYAMOYA DISEASE See: Stroke; Vascular Malformations MUCOLIPIDOSES See: Mucopolysaccharidosis; Mucolipidosis Type IV," Tay-Sachs Disease MUCOLIPIDOSIS TYPE IV See also: Mucopolysaccharidosis; Tay-Sachs Disease; Visual Impairments ML4 Foundation 719 East 17th St.
Palmdale, CA 93551 (805) 267-2570 (voice/fax) ??lorit@netport..com http://www.wincom.net/moebius/ 1,2,3,6,8,9 MONOSOMY X See: Turner Syndrome MORQUIO SYNDROME See: Mucopolysaccharidosis; Tay-Sachs Disease MORVAN DISEASE See: Syringomyelia MOTOR-SENSORY NEUROPATHY, HEREDITARY See: Charcot-Marie-Tooth Disease MOYAMOYA DISEASE See: Stroke; Vascular Malformations Families with Moyamoya Network c/o Dawn Gruettner 4900 McGowan St., SE Cedar Rapids, IA 52403 (800) 261-6692 2,3 MUCOLIPIDOSES See: Mucopolysaccharidosis; Mucolipidosis Type IV; Tay-Sachs Disease MUCOLIPIDOSIS TYPE IV See also: Mucopolysaccharidosis; Tay-Sachs Disease; Visual Impairments ML4 Foundation 719 East 17th St.
SE Cedar Rapids, IA 52403 (800) 261-6692 2,3 MUCOLIPIDOSES See: Mucopolysaccharidosis; Mucolipidosis Type IV; Tay-Sachs Disease MUCOLIPIDOSIS TYPE IV See: Mucopolysaccharidosis; Tay-Sachs Disease; Visual Impairments ML4 Foundation 719 E.