Glycogen storage diseases - Revision history

Jensflorian: /* Pompe disease */ +update

2015-04-17T12:24:27Z

Pompe disease: +update

← Older revision		Revision as of 12:24, 17 April 2015
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	=Specific diseases=		=Specific diseases=
	==Pompe disease==		==Pompe disease==
	*[[AKA]] ~~glycogenosis~~ II, [[AKA]] acid maltase deficiency, [[AKA]] alpha-1,4-glucosidase deficiency.<ref>URL: [http://www.ncbi.nlm.nih.gov/omim/606800 http://www.ncbi.nlm.nih.gov/omim/606800]. Accessed on: 11 January 2011.</ref>		*[[AKA]] glycogen storage disease type II, [[AKA]] acid maltase deficiency, [[AKA]] alpha-1,4-glucosidase deficiency.<ref>URL: [http://www.ncbi.nlm.nih.gov/omim/606800 http://www.ncbi.nlm.nih.gov/omim/606800]. Accessed on: 11 January 2011.</ref>

	===General===		===General===
	Deficiency of ''alpha-1,4-glucosidase''; it degrades glycogen to glucose in lysosomes.		*Deficiency of ''alpha-1,4-glucosidase''; it degrades glycogen to glucose in lysosomes.
			*Autosomal recessive inheritance.
			*Identified in 1932 by dutch pathologist Johannes C. Pompe.<ref>Pompe J-C. Over idiopatische hypertropie van het hart. Ned Tijdscr Geneeskd 1932; 76:304.</ref>
			* A enzyme replacement therapy exists. <ref>{{Cite journal \| last1 = Amalfitano \| first1 = A. \| last2 = Bengur \| first2 = AR. \| last3 = Morse \| first3 = RP. \| last4 = Majure \| first4 = JM. \| last5 = Case \| first5 = LE. \| last6 = Veerling \| first6 = DL. \| last7 = Mackey \| first7 = J. \| last8 = Kishnani \| first8 = P. \| last9 = Smith \| first9 = W. \| title = Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial. \| journal = Genet Med \| volume = 3 \| issue = 2 \| pages = 132-8 \| month = \| year = \| doi = 10.109700125817-200103000-00007 \| PMID = 11286229 }}
			</ref>

			===Clinical===
			*infantile onset (usually at age 4-8months):
			**Floppy baby.
			**Macroglossia.
			**Hepatomegaly.
			**Big heart - often early death from cardiac failure.
			*late onset (usually at age 1-2years):
			**Progressive muscle weakness (myopathy).
			**Usually only mild cardiac involvement.

	~~Clinical~~:		Note: clinical course correlates with remaining enzyme activity.<ref>{{Cite journal \| last1 = Hermans \| first1 = MM. \| last2 = van Leenen \| first2 = D. \| last3 = Kroos \| first3 = MA. \| last4 = Beesley \| first4 = CE. \| last5 = Van Der Ploeg \| first5 = AT. \| last6 = Sakuraba \| first6 = H. \| last7 = Wevers \| first7 = R. \| last8 = Kleijer \| first8 = W. \| last9 = Michelakakis \| first9 = H. \| title = Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II. \| journal = Hum Mutat \| volume = 23 \| issue = 1 \| pages = 47-56 \| month = Jan \| year = 2004 \| doi = 10.1002/humu.10286 \| PMID = 14695532 }}</ref>
	*Floppy baby.
	*Big heart.
	**Often early death from cardiac failure.

			===Diagnosis===
			* Mutations in acid alpha-glucosidase.
			* Elevated serum CK (<10x).
			* Cytoplasmic (lysosomal) vacuoles (Acid phosphatase +ve).
			* Muscle fibers with vacuoles enlarged.
			* Type 1 fibers more often affected.
			* PAS+ve deposits.
			* Autophagic (Lysosomal) vacuoles in electron microscopy.
	<gallery>		<gallery>
	File:Pompe_vacuoles.jpg \| Large vacuoles in Pompe disease (H&E, WC/jensflorian)		File:Pompe_vacuoles.jpg \| Large vacuoles in Pompe disease (H&E, WC/jensflorian)

Jensflorian: +pictures

2015-04-17T11:53:49Z

+pictures

← Older revision		Revision as of 11:53, 17 April 2015
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	'''Glycogen storage diseases''' a group of diseases characterized by the accumulation of glycogen.		'''Glycogen storage diseases''' a group of diseases characterized by the accumulation of glycogen.

			=Clinical picture=
			*Exercise intolerance
			*Usually due to specific muscle enzyme defects

			DDx:
			* Mitochondriopathies
			* Carnitine palmitoyltransferase II (CPT2) deficiency

	=General microscopic=		=General microscopic=
	Features:<ref>URL: [http://neuromuscular.wustl.edu/pathol/acidmchi.htm http://neuromuscular.wustl.edu/pathol/acidmchi.htm]. Accessed on: 11 January 2011.</ref>		Features:<ref>URL: [http://neuromuscular.wustl.edu/pathol/acidmchi.htm http://neuromuscular.wustl.edu/pathol/acidmchi.htm]. Accessed on: 11 January 2011.</ref>
	*+/-Vacuolated muscle fibres. ~~(???)~~		*+/-Vacuolated muscle fibres.
			*acid phosphatase+ve in vaculoes.
			*PAS+ve.

	Images:		Images:
			<gallery>
			File:HE_glycogen_storage_disease_highmag.jpg \| Abnormal glycogen is not easy to spot in this muscle biopsy HE stain (WC/jensflorian)
			File:PAS_glycogen_storage_disease_intermed_mag.jpg \| Intramuscular glycogen is usually PAS+++ve (WC/jensflorian)
			Trichrom_glycogen_storage_disease_intermed_mag..jpg \| Lack of staining in intramuscular deposits, Trichrom Gömöri (WC/jensflorian)
			File:Polyglucosan body disease.jpg \| Lafora-like polyglucosan bodies in the CNS, low magnification (WC/jensflorian)
			File:Adult polyglucosan body disease histopathology.jpg \| Lafora-like polyglucosan bodies in the CNS, higher magnification(WC/marvin101)
			File:Glycogen storage disorder - Liver.jpg \| Large vacuoles in the liver, HE stain (WC/Netha Hussain)
			</gallery>
	*[http://neuromuscular.wustl.edu/pathol/acidmalt.htm Glycogen storage disease (wustl.edu)].		*[http://neuromuscular.wustl.edu/pathol/acidmalt.htm Glycogen storage disease (wustl.edu)].
	*[http://www.brown.edu/Courses/Digital_Path/systemic_path/hepatobiliary/gsd1.html Glycogen storage disease (brown.edu)].		*[http://www.brown.edu/Courses/Digital_Path/systemic_path/hepatobiliary/gsd1.html Glycogen storage disease (brown.edu)].
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	*Big heart.		*Big heart.
	**Often early death from cardiac failure.		**Often early death from cardiac failure.

			<gallery>
			File:Pompe_vacuoles.jpg \| Large vacuoles in Pompe disease (H&E, WC/jensflorian)
			File:Phenotypical-variation-within-22-families-with-Pompe-disease-1750-1172-8-182-S1.ogv \| Clinical phenotype in Pompe disease (WC/Wens et. al.)
			</gallery>

	==Cori disease==		==Cori disease==

Michael: /* Cori disease */ +image

2011-06-02T03:19:42Z

Cori disease: +image

← Older revision		Revision as of 03:19, 2 June 2011
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	**Classically: PAS +ve, PAS-D -ve.		**Classically: PAS +ve, PAS-D -ve.
	*Portal fibrosis.		*Portal fibrosis.

			Image:
			*[http://commons.wikimedia.org/wiki/File:Glycogen_storage_disease_in_liver_-_high_mag.jpg Glycogen storage disease consistent with Cori disease - high mag. (WC)].

	==Stains==		==Stains==

Michael: chg format

2011-01-26T00:43:55Z

chg format

← Older revision		Revision as of 00:43, 26 January 2011
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	'''Glycogen storage diseases''' a group of diseases characterized by the accumulation of glycogen.		'''Glycogen storage diseases''' a group of diseases characterized by the accumulation of glycogen.

	=~~=Microscopic=~~=		=General microscopic=
	Features:<ref>URL: [http://neuromuscular.wustl.edu/pathol/acidmchi.htm http://neuromuscular.wustl.edu/pathol/acidmchi.htm]. Accessed on: 11 January 2011.</ref>		Features:<ref>URL: [http://neuromuscular.wustl.edu/pathol/acidmchi.htm http://neuromuscular.wustl.edu/pathol/acidmchi.htm]. Accessed on: 11 January 2011.</ref>
	*+/-Vacuolated muscle fibres. (???)		*+/-Vacuolated muscle fibres. (???)
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	*[http://www.brown.edu/Courses/Digital_Path/systemic_path/hepatobiliary/gsd1.html Glycogen storage disease (brown.edu)].		*[http://www.brown.edu/Courses/Digital_Path/systemic_path/hepatobiliary/gsd1.html Glycogen storage disease (brown.edu)].

			=Electron microscopy=
			*Electron dense deposits.

			=Specific diseases=
	==Pompe disease==		==Pompe disease==
	*[[AKA]] glycogenosis II, [[AKA]] acid maltase deficiency, [[AKA]] alpha-1,4-glucosidase deficiency.<ref>URL: [http://www.ncbi.nlm.nih.gov/omim/606800 http://www.ncbi.nlm.nih.gov/omim/606800]. Accessed on: 11 January 2011.</ref>		*[[AKA]] glycogenosis II, [[AKA]] acid maltase deficiency, [[AKA]] alpha-1,4-glucosidase deficiency.<ref>URL: [http://www.ncbi.nlm.nih.gov/omim/606800 http://www.ncbi.nlm.nih.gov/omim/606800]. Accessed on: 11 January 2011.</ref>
			===General===
	~~Physiologic function~~ of ''alpha-1,4-glucosidase'':		Deficiency of ''alpha-1,4-glucosidase''; it degrades glycogen to glucose in lysosomes.
	*Acid alpha-glucosidase degrades glycogen to glucose in lysosomes.

	Clinical:		Clinical:
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	*Big heart.		*Big heart.
	**Often early death from cardiac failure.		**Often early death from cardiac failure.

			==Cori disease==
			*[[AKA]] glycogen storage disease type III.<ref>URL: [http://www.ncbi.nlm.nih.gov/omim/232400 http://www.ncbi.nlm.nih.gov/omim/232400]. Accessed on: 25 January 2011.</ref>
			===General===
			*Hepatomegaly.

			===Microscopic===
			Features:
			*Hypertrophic hepatocytes with pale cytoplasm.
			**Classically: PAS +ve, PAS-D -ve.
			*Portal fibrosis.

	==Stains==		==Stains==
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	*[[PAS-D stain\|PAS-D]] -ve.		*[[PAS-D stain\|PAS-D]] -ve.

	==See also==		=See also=
	*[[Lysosomal storage diseases]].		*[[Lysosomal storage diseases]].

	==References==		=References=
	{{Reflist\|2}}		{{Reflist\|2}}

	[[Category:Weird stuff]]		[[Category:Weird stuff]]

Michael: /* Stains */ +see also

2011-01-24T15:19:18Z

Stains: +see also

← Older revision		Revision as of 15:19, 24 January 2011
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	*[[PAS stain\|PAS]] +ve.		*[[PAS stain\|PAS]] +ve.
	*[[PAS-D stain\|PAS-D]] -ve.		*[[PAS-D stain\|PAS-D]] -ve.

			==See also==
			*[[Lysosomal storage diseases]].

	==References==		==References==

Michael: fix... after rename

2011-01-24T15:18:33Z

fix... after rename

← Older revision		Revision as of 15:18, 24 January 2011
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	'''Glycogen storage ~~disease~~''' a group of diseases characterized by the accumulation of glycogen.		'''Glycogen storage diseases''' a group of diseases characterized by the accumulation of glycogen.

	==Microscopic==		==Microscopic==

Michael: moved Glycogen storage disease to Glycogen storage diseases: match lysosomal storage diseases

2011-01-24T15:18:14Z

moved Glycogen storage disease to Glycogen storage diseases: match lysosomal storage diseases

← Older revision

Revision as of 15:18, 24 January 2011

Michael: /* Microscopic */

2011-01-11T18:33:34Z

Microscopic

← Older revision		Revision as of 18:33, 11 January 2011
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	==Microscopic==		==Microscopic==
	Features:<ref>URL: [http://neuromuscular.wustl.edu/pathol/acidmchi.htm http://neuromuscular.wustl.edu/pathol/acidmchi.htm]. Accessed on: 11 January 2011.</ref>		Features:<ref>URL: [http://neuromuscular.wustl.edu/pathol/acidmchi.htm http://neuromuscular.wustl.edu/pathol/acidmchi.htm]. Accessed on: 11 January 2011.</ref>
	*+/-Vacuolated muscle fibres.		*+/-Vacuolated muscle fibres. (???)

	Images:		Images:

Michael: /* Microscopic */ +image

2011-01-11T18:32:09Z

Microscopic: +image

← Older revision		Revision as of 18:32, 11 January 2011
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	Images:		Images:
	*[http://neuromuscular.wustl.edu/pathol/acidmalt.htm Glycogen storage disease (wustl.edu)].		*[http://neuromuscular.wustl.edu/pathol/acidmalt.htm Glycogen storage disease (wustl.edu)].
			*[http://www.brown.edu/Courses/Digital_Path/systemic_path/hepatobiliary/gsd1.html Glycogen storage disease (brown.edu)].

	==Pompe disease==		==Pompe disease==

Michael: +Pompe disease

2011-01-11T18:30:50Z

+Pompe disease

← Older revision		Revision as of 18:30, 11 January 2011
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	Images:		Images:
	*[http://neuromuscular.wustl.edu/pathol/acidmalt.htm Glycogen storage disease (wustl.edu)].		*[http://neuromuscular.wustl.edu/pathol/acidmalt.htm Glycogen storage disease (wustl.edu)].

			==Pompe disease==
			*[[AKA]] glycogenosis II, [[AKA]] acid maltase deficiency, [[AKA]] alpha-1,4-glucosidase deficiency.<ref>URL: [http://www.ncbi.nlm.nih.gov/omim/606800 http://www.ncbi.nlm.nih.gov/omim/606800]. Accessed on: 11 January 2011.</ref>

			Physiologic function of ''alpha-1,4-glucosidase'':
			*Acid alpha-glucosidase degrades glycogen to glucose in lysosomes.

			Clinical:
			*Floppy baby.
			*Big heart.
			**Often early death from cardiac failure.

	==Stains==		==Stains==