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the 7th letter of the Roman alphabet (同)g

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/04/15 08:16:19」(JST)

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The GM1 gangliosidoses are caused by a deficiency of beta-galactosidase, with resulting abnormal storage of acidic lipid materials in cells of the central and peripheral nervous systems, but particularly in the nerve cells.

Types

GM1 has three forms: early infantile, late infantile, and adult.

Early infantile GM1

Symptoms of early infantile GM1 (the most severe subtype, with onset shortly after birth) may include neurodegeneration, seizures, liver enlargement (hepatomegaly), spleen enlargement (splenomegaly), coarsening of facial features, skeletal irregularities, joint stiffness, distended abdomen, muscle weakness, exaggerated startle response to sound, and problems with gait.

About half of affected patients develop cherry-red spots in the eye.

Children may be deaf and blind by age 1 and often die by age 3 from cardiac complications or pneumonia.

Autosomal recessive disorder; beta-galactosidase deficiency; neuronal storage of GM1 ganglioside and visceral storage of galactosyl oligosaccharides and keratan sulfate.
Early psychomotor deterioration: decreased activity and lethargy in the first weeks; never sit; feeding problems - failure to thrive; visual failure (nystagmus noted) by 6 months; initial hypotonia; later spasticity with pyramidal signs; secondary microcephaly develops; decerebrate rigidity by 1 year and death by age 1–2 years (due to pneumonia and respiratory failure); some have hyperacusis.
Macular cherry-red spots in 50% by 6–10 months; corneal opacities in some
Facial dysmorphology: frontal bossing, wide nasal bridge, facial edema (puffy eyelids); peripheral edema, epicanthus, long upper lip, microretrognathia, gingival hypertrophy (thick alveolar ridges), macroglossia
Hepatomegaly by 6 months and splenomegaly later; some have cardiac failure
Skeletal deformities: flexion contractures noted by 3 months; early subperiosteal bone formation (may be present at birth); diaphyseal widening later; demineralization; thoracolumbar vertebral hypoplasia and beaking at age 3–6 months; kyphoscoliosis. *Dysostosis multiplex (as in the mucopolysaccharidoses)
10–80% of peripheral lymphocytes are vacuolated; foamy histiocytes in bone marrow; visceral mucopolysaccharide storage similar to that in Hurler disease; GM1 storage in cerebral gray matter is 10-fold elevated (20–50-fold increased in viscera)
Galactose-containing oligosacchariduria and moderate keratan sulfaturia
Morquio disease Type B: Mutations with higher residual beta-galactosidase activity for the GM1 substrate than for keratan sulfate and other galactose-containing oligosaccharides have minimal neurologic involvement but severe dysostosis resembling Morquio disease type A (Mucopolysaccharidosis type 4).

^[1]

Late infantile GM1

Onset of late infantile GM1 is typically between ages 1 and 3 years.

Neurological symptoms include ataxia, seizures, dementia, and difficulties with speech.

Adult GM1

Onset of adult GM1 is between ages 3 and 30.

Symptoms include muscle atrophy, neurological complications that are less severe and progress at a slower rate than in other forms of the disorder, corneal clouding in some patients, and dystonia (sustained muscle contractions that cause twisting and repetitive movements or abnormal postures). Angiokeratomas may develop on the lower part of the trunk of the body. Most patients have a normal size liver and spleen.

Notes

^ Lyon, GL et al. (1996), Neurology of Hereditary Metabolic Diseases of Children (2 ed.), pp. 53–55

UpToDate Contents

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1. 先天性代謝異常：疫学、病因、および臨床的特徴 inborn errors of metabolism epidemiology pathogenesis and clinical features
2. 先天性代謝異常：分類 inborn errors of metabolism classification
3. 筋萎縮性側索硬化症およびその他の運動ニューロン疾患の診断 diagnosis of amyotrophic lateral sclerosis and other forms of motor neuron disease
4. 幼児および小児における精密な神経学的評価 detailed neurologic assessment of infants and children
5. ギラン・バレー症候群の病因 pathogenesis of guillain barre syndrome

English Journal

5-Fluoro derivatives of 4-epi-isofagomine as d-galactosidase inhibitors and potential pharmacological chaperones for GM1-gangliosidosis as well as Fabry's disease.

Thonhofer M1, Gonzalez Santana A2, Fischer R3, Torvisco Gomez A3, Saf R4, Schalli M1, Stütz AE5, Withers SG2.
Carbohydrate research.Carbohydr Res.2016 Feb;420:6-12. doi: 10.1016/j.carres.2015.10.009. Epub 2015 Dec 8.
Electrophilic fluorination of an exocyclic methoxymethylene enol ether derived from N-tert-butyloxycarbonyl-1,5-dideoxy-1,5-imino-3,4-O-isopropylidene-d-erythro-pent-2-ulose (11) provided the 5-fluoro derivative of the powerful β-galactosidase inhibitor 4-epi-isofagomine (8). This structural altera
PMID 26717544

GM1 gangliosidosis in a Japanese domestic cat: a new variant identified in Hokkaido, Japan.

Ueno H1, Yamato O, Sugiura T, Kohyama M, Yabuki A, Miyoshi K, Matsuda K, Uchide T.
The Journal of veterinary medical science / the Japanese Society of Veterinary Science.J Vet Med Sci.2016 Feb 1;78(1):91-5. doi: 10.1292/jvms.15-0281. Epub 2015 Aug 3.
A male Japanese domestic cat with retarded growth in Hokkaido, Japan, showed progressive motor dysfunction, such as ataxia starting at 3 months of age and tremors, visual disorder and seizure after 4 months of age. Finally, the cat died of neurological deterioration at 9 months of age. Approximately
PMID 26234889

Synthesis of C-5a-chain extended derivatives of 4-epi-isofagomine: Powerful β-galactosidase inhibitors and low concentration activators of GM1-gangliosidosis-related human lysosomal β-galactosidase.

Thonhofer M1, Weber P1, Santana AG2, Fischer R3, Pabst BM4, Paschke E4, Schalli M1, Stütz AE5, Tschernutter M4, Windischhofer W4, Withers SG2.
Bioorganic & medicinal chemistry letters.Bioorg Med Chem Lett.2016 Jan 22. pii: S0960-894X(16)30061-0. doi: 10.1016/j.bmcl.2016.01.059. [Epub ahead of print]
From an easily available partially protected formal derivative of 1-deoxymannojirimycin, by hydroxymethyl chain-branching and further elaboration, lipophilic analogs of the powerful β-d-galactosidase inhibitor 4-epi-isofagomine have become available. New compounds exhibit improved inhibitory activi
PMID 26838810

Japanese Journal

Intracerebral cell transplantation therapy for murine GM1 gangliosidosis

SAWADA Tomo,TANAKA Akemi,HIGAKI Katsumi,TAKAMURA Ayumi,NANBA Eiji,SETO Toshiyuki,MAEDA Mitsuyo,YAMAGUCHI Etsuko,MATSUDA Junichiro,YAMANO Tunekazu
Brain & development 31(10), 717-724, 2009-11-01
NAID 10026412886

末梢血泡沫細胞と頭部MRIでの髄鞘化遅延を認めたGM1ガングリオシドーシスの1例

稲垣真一郎,小坂仁,辻恵,鮫島希代子,井合瑞江,山田美智子,山下純正,黒澤健司,永井淳一,相田典子,田中祐吉,豊田雅哲,中村充,難波栄二
日本小児科学会雑誌 113(6), 967-971, 2009-06-01
NAID 10024843827

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★リンクテーブル★

リンク元	「GM1ガングリオシドーシス」
関連記事	「G」「gangliosidosis」

「GM1ガングリオシドーシス」

GM1 gangliosidoses
Classification and external resources
ICD-10	E75.1
ICD-9	330.1
OMIM	230600 230650, 230500
DiseasesDB	32008 32014
eMedicine	ped/2891
MeSH	D016537