Sandbox:Vellayat

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vellayat Ali M.B.B.S[2]

Interstitial lung disease

Lung Response: Granulomatous

Lung Response: Alveolitis, Interstitial Inflammation, and Fibrosis

Known

Idiopathic (Unknown)

Hypersensitivity pneumonitis (organic dusts)

Inorganic dusts

Sarcoidosis

Lymphomatoid granulomatosis

Granulomatous vasculitides

Bronchocentric granulomatosis

Beryllium

Silica

Eosinophilic granulomatosis with polyangiitis (Churg Strauss syndrome)

Granulomatosis with polyangiitis (Wegener's)

Known cause

Idiopathic (Unknown)

Drug-induced pulmonary toxicity

Occupational and environmental exposure

Radiation-induced lung injury

Aspiration pneumonia

Smoking-related

Residual of acute respiratory distress syndrome

Inhaled inorganic dust

Inhaled organic dusts

Inhaled agents other than inorganic or organic dusts

Desquamative interstitial pneumonia

Respiratory bronchiolitis–associated interstitial lung disease

Pulmonary Langerhans cell granulomatosis

Pulmonary alveolar proteinosis

Idiopathic interstitial pneumonias

Lymphocytic infiltrative disorders (lymphocytic interstitial pneumonitis associated with connective tissue disease)

Connective tissue diseases

Gastrointestinal or liver diseases

Inherited diseases

Graft-versus-host disease

Pulmonary hemorrhage syndromes

Eosinophilic pneumonias

Lymphangioleiomyomatosis

Amyloidosis

Major idiopathic interstitial pneumonias

Rare idiopathic interstitial pneumonias

Unclassifiable idiopathic interstitial pneumonias

• Idiopathic pulmonary fibrosis • Idiopathic nonspecific interstitial pneumonia • Respiratory bronchiolitis-interstitial lung disease • Desquamative interstitial pneumonia • Cryptogenic organising pneumonia • Acute interstitial pneumonia

• Idiopathic lymphoid interstitial pneumonia • Idiopathic pleuroparenchymal fibroelastosis

• Systemic lupus erythematosus • Rheumatoid arthritis • Ankylosing spondylitis • Systemic sclerosis • Sjögren syndrome • Polymyositis • Dermatomyositis

• Crohn disease • Primary biliary cirrhosis • Chronic active hepatitis • Ulcerative colitis

• Tuberous sclerosis • Neurofibromatosis • Niemann-Pick disease • Gaucher disease • Hermansky-Pudlak syndrome

• Bone marrow transplantation • Solid organ transplantation

• Goodpasture syndrome • Idiopathic pulmonary hemosiderosis • Isolated pulmonary capillaritis

Type of respiratory failure	Causes/Etiology		Onset	Clinical manifestations					Investigations		Gold standard	Other features
				Symptoms				Physical exam
				Dyspnea	Cough	Fever	Others findings		Imaging	Labs
Hypoxic respiratory failure (Type 1 respiratory failure)	Cardiogenic pulmonary edema	Acute decompensated heart failure	Acute	+	+ with frothy expectoration	+/-	nausea and anorexia confusion headaches	Wheezing Increased pulse rate Crackles Pedal edema Elevated JVP Obtundation Enlarged liver	Cardiomegaly and interstitial edema in chest radiograph Echocardiography	Pulse oximetry Assays for BNP (B-type natriuretic peptide) and NT-proBNP (N-terminal pro-B-type natriuretic peptide) Cardiac troponin levels ST and T waves abnormalities in ECG	Clinical diagnosis	History of heart disease, hypertension
	Non cardiogenic pulmonary edema	Adult respiratory distress syndrome (ARDS)	Acute	+	+/-	+/-	Cyanosis	Tachypnea Tachycardia Diffuse crackles	Diffuse, bilateral, alveolar infiltrates without cardiomegaly in chest radiograph Bilateral opacities in CT	Hypoxemia with acute respiratory alkalosis in arterial blood gases	Clinical diagnosis with supportive test	According to Berlin definition: One week of new or worse respiratory symptoms or clinical insult Symptoms can not be explained by cardiac disease Bilateral opacities in chest X-Ray or CT Compromised oxygenation
		High-Altitude Pulmonary edema (HAPE)	Acute	+	+ with frothy expectoration	+	Chest tightness Decreased exercise performance	Wheezing	Chest X-ray may show patchy alveolar infiltrates, predominantly in the right central hemithorax, which become more confluent and bilateral as the illness progresses	High levels of white blood cell count Decreased of oxygen saturation	Clinical diagnosis with supportive test	Occurrs over 2500 m Descent is mandatory in >4000 m
		Neurogenic pulmonary edema	Acute	+	+/- with frothy expectoration	+/-	Hemoptysis	Rales Bilateral crackles	Bilateral hyperdense infiltration in chest X-Ray	CBC may show Leukocytosis Bilateral hyperdense infiltrations on chest X-Ray	Diagnosis of exclusion A proposed criteria is as follows Bilateral infiltrates PaO2/FiO2 ratio < 200 No evidence of left atrial hypertension Presence of CNS injury Absence of other common causes of acute respiratory distress or ARDS	Major causes of NPE are epileptic seizures, cerebral hemorrhages and brain injury
		Pulmonary embolism	Acute Sub-acute Chronic	+	+	+/-	Chest pain Orthopnea	Wheezing Tachypnea Edema Decreased breath sounds Tachycardia	Hamptom and Westermark sign may be seen in chest X-Ray	Leukocytosis, elevated erythrocyte sedimentation and lactic acid in complete blood count Hypoxemia in arterial blood gas D-dimer to rule out other diseases Tachycardia and abnormalities in ST-segment and T waves are observed in ECG VQ scan	Computed tomography pulmonary angiogram (CTPA) or catheter based pulmonary angiography	Venous thromboembolism (VTE)
	Pneumonia		Acute	+	+ with sputum production	+	Pleuritic chest pain	Egophony Crackles Tactile fremitus Bronchial breath sounds	Infiltration in chest X-Ray	Leukocytosis Sputum culture & sensitivity	Clinical manifestations and infiltration chest X-Ray with or without microbiological test	Community-acquired pneumonia Hospital-acquired pneumonia Healthcare-associated pneumonia Ventilator-associated pneumonia Aspiration pneumonia
	Idiopatic chronic lung fibrosis		Chronic	+	+ without any sputum production	+/-	symptoms suggestive of rheumatic diseases may be present	Clubbing of the digits Bibasilar Crackles	Reticular or nodular pattern in chest X-Ray HRCT may show reticular opacities, including honeycomb changes and traction bronchiectasis	Serological tests e.g. ANA, RF for underlying rheumatological diseases Reduced FEV1 and FVC on spirometry	Clinical presentation in combinations with HRCT findings Lung biopsy when lab, imaging and PFT do not yield enough evidence	History of cigarette smoking
Hypercapnic respiratory failure (Type 2 respiratory failure)	COPD		Acute Chronic Acute-on-chronic	+	+	+/-	Exercise intolerance Acute exacerbation may affect CNS, ranging from irritability to decreased responsiveness	Clubbing Tachypnea Barrel shaped chest Decreased breath sounds with prolonged expiration Rhonchi and Wheeze Use of accessory respiratory muscles Increased JVP, peripheral edema may manifest with right ventricular overload during an acute exacerbation	Chest X-ray may show hyperinflation, flattened diaphragm, rapid tapering of vascular markings  CT scan helps to correlate with COPD prognosis	PFTs: (FEV1/FVC) <70% of predicted    ABGs: Mild to moderate hypoxemia, hypercapnia with progression of disease, pH is around normal, < 7.3 points to respiratory acidosis	Clinical diagnosis with supportive test	CNS symptoms may be the only manifestation in elderly with baseline hypercapnia
	Severe Asthma/Status Asthmaticus		Acute	+	+	-	Chest tightness Audible wheeze	Tachypnea Tachycardia Wheezing Use of accessory respiratory muscles Unable to speak full sentences Orthopnea Pulsus paradoxus	Chest X-ray not required in acute conditions, may show hyperinflation	PEF <40 percent predicted or personal best Pulse oximetry ABGs	Clinical diagnosis	History of bronchial asthma
	Drug Overdose (opioid toxicity)		Acute	+	-	-	Nausea and vomiting Constipation Seizures	Classic triad suggesting opioid toxicity consist of respiratory depression, pinpoint pupils, and altered mental state  Conjunctival injection, Decreased bowel sounds Euphoria	Chest X-ray usually not required, may show signs of acute lung injury	Urine toxicology screen: may reveal polysubstance abuse	Clinical diagnosis with supportive test	Toxicity from antipsychotics, anticonvulsants, ethanol, and sedatives can result in miosis and altered mentation, but respiratory depression is usually absent
	Myasthenic crisis		Acute	+	+/-	+/-	Inability to cough Bulbar weakness: dysphagia, nasal regurgitation, a nasal quality to speech, staccato speech, jaw weakness, bi-facial paresis, and tongue weakness	Expressionless face with droopy eyelids and mouth Use of accessory muscles of respiration i.e. external intercostal muscles, sternocleidomastoid, scalene muscles Rapid and shallow breathing	Chest X-ray findings depicting bacterial pneumonia and/or aspiration may be observed	Pulse Oximetry ABGs CBC: Infective cause precipitating the crisis may be observed Tensilon (edorphonium) test	Clinical diagnosis with supportive test	Known case of Myasthenia Gravis In some cases, respiratory failure may be the presenting symptom
	Guillain-Barré syndrome		Acute	+	-	+/-	Difficulty walking (ascending symmetric muscular weakness) Paresthesias in hands and feet Back pain Pain in extremities	Dysautonomia (tachycardia/bradycardia, hypertension/hypotension, urinary retention) Diminished or absent deep tendon reflexes Limb weakness (first lower then upper limbs) Facial droop (Facial nerve palsy) Ophthalmoparesis (3rd & 6th nerve palsies) Decreased breath sounds Decreased bowel sounds	MRI Spine: thickening of intrathecal spinal nerve roots and cauda equina	CSF analysis: Albuminocytologic dissociation Nerve conduction studies may show conduction block, slowed motor conduction velocities and delayed latencies PFTs: Vital Capacity, maximum inspiratory pressure (PImax) and maximum expiratory pressure (PEmax) should be followed to determine appropriate timing of intubation and mechanical ventilation	Clinical diagnosis with supportive test	Signs depicting respiratory failure occur late, early manifestations are tachypnea, tachycardia, air hunger, broken sentences, and a need to pause between sentences Use of the accessory respiratory muscles, paradoxical breathing, and orthopnea indicate severe diaphragmatic weakness
Perioperative respiratory failure (Type 3 respiratory failure)	Post-operative atelectasis		Acute	+	+/-	+/-	Asyptomatic or increase work of breathing	Tachypnea Tachycardia Decreased movement in the affected lung area Dullness percussion note Absent breath sounds Tracheal deviation to affected side	Chest X-ray may show increased density and reduced volume CT chest accurately shows the involved segment	Pulse oximetry ABGs	Clinical diagnosis with support of radiographic findings	History of abdominal or thoracic surgery
Type 4 respiratory failure	Shock		Acute	+	-	+/-	Oliguria Abnormal mental status Clammy skin Cool extremities	Hypotension Tachycardia Tachypnea Rales Gallop rythm	Visible congestion in chest X-Ray	Electrocardigogram Increased levels of lactic acid Low levels of Bicarbonate Echocardiography to identify any cardiac dysfunction	Clinical diagnosis with supportive test	Cardiac index decreased Troponin leves, chemestry screen, complete blood count Cardiogenic shock Septic shock Hypovolemic shock

Overview

underlying condition	Onset of respiratory failure	Physical examination	Symptoms	Labs and imaging	others
COPD	Acute Chronic Acute on chronic	Clubbing Tachypnea Barrel shaped chest Decreased breath sounds with prolonged expiration Rhonchi and Wheeze Use of accessory respiratory muscles Increased JVP, peripheral edema may manifest with right ventricular overload during an acute exacerbation.1	Dyspnea Cough with/without sputum Exercise intolerance Acute exacerbations may affect CNS, ranging from irritability to decreased responsiveness. CNS symptoms may be the only manifestation in elderly with baseline hypercapnia.2	Chest X-ray: hyperinflation, flattened diaphragm, rapid tapering of vascular markings  PFTs: (FEV1/FVC) <70% of predicted    ABGs: Mild to moderate hypoxemia, hypercapnia with progression of disease, pH is around normal, below 7.3 points to respiratory acidosis	History of smoking, cough and sputum production
Severe Asthma/Status Asthmaticus	Acute	Tachypnea Tachycardia Use of accessory respiratory muscles Unable to speak full sentences Orthopnea Pulsus paradoxus	Dyspnea Wheezing Cough Chest tightness	PEF <40 percent predicted or personal best Pulse oximetry Chest X-ray: not required in acute conditions, may show hyperinflation	Hx of Bronchial asthma Presence of Drowsiness3 and silent chest is a useful predictor of impending respiratory failure

We, therefore, propose the following diagnostic criteria for this subset of NPE: 1)

Acute hypercapnic respiratory failure: the patient will have no, or minor, evidence of preexisting respiratory disease, and arterial blood gas tensions will show a high Paco₂, low pH, and normal bicarbonate.

▪

Chronic hypercapnic respiratory failure: evidence of chronic respiratory disease, high Paco₂, near normal pH, high bicarbonate.

▪

Acute-on-chronic hypercapnic respiratory failure: an acute deterioration in an individual with significant preexisting hypercapnic respiratory failure, high Paco₂, low pH, high bicarbonate.

Glycogen Storage Disease Type IV

Synonyms: GSD IV, Andersen Disease, Brancher deficiency; Amylopectinosis; Glycogen Branching Enzyme Deficiency, Glycogenosis IV

 

Overview:

 

Historical Perspective:  

- In 1952, B Illingworth and GT Cori observed accumulation of an abnormal glycogen (resembling amylopectin) in the liver of a patient with von Gierke’s Disease. They postulated this finding to a different type of enzymatic deficiency, and thus to a different type of glycogen storage disease.[1]

- In 1956, DH Andersen, an American pathologist and pediatrician, reported the first clinical case of the disease as "familial cirrhosis of the liver with storage of abnormal glycogen".[2]

- In 1966, BI Brown and DH Brown clearly demonstrated the deficiency of glycogen branching enzyme (alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase) in a case of Type IV glycogenosis.[3]

 

Classification

There is no established system for the classification of GSD Type IV. The deficiency of GBE affecting the liver, the brain, the heart, and skeletal muscles leads to variable clinical presentations. Based on organ/tissue involvement, age of onset and clinical features, Andersen disease can be segregated into various forms [16] as below:

Form of Presentation	Age of  Onset	Clinical Features
Classic Hepatic Form     Neuromuscular form      A-Perinatal             B-Congenital         C-Late childhood form        D-Adult form	0-18 Mo         In utero      At birth          0-18 yrs    >18-21 yrs (any age in adulthood)	Infants present with failure to thrive, and hepatosplenomegaly. Progresses to portal hypertension, ascites, and liver failure, leading to death by 5 years of age.[17]     Prenatal symptoms include, polyhydramnios, hydrops fetalis, and decreased fetal movement; at birth severe hypotonia is observed requiring mechanical ventilation for respiratory support. [18][19] Cardiac findings like progressive cardiomyopathy may also be present.[19]  Newborns may have severe hypotonia, hyporeflexia, cardiomyopathy, depressed respiration and neuronal involvement, leading to death in early infancy. [21]     Presents in childhood at any age with myopathy as exercise intolerance, and cardiopathy as exertional dyspnea; and congestive heart failure in progressed cases. [21].   May present as isolated myopathy [23] or as Adult Polyglucosan Body Disease (APBD) [22]

Adult polyglucosan body disesase (APBD)

 

- Adult polyglucosan body disease is one of the neuromuscular variant of GSD Type IV.

- Typically, the first clinical manifestation is of urinary incontinence (secondary to neurogenic bladder), followed by gait disturbance (due to spastic paraplegia) and lower limb paresthesias (due to axonal neuropathy). [15]

Pathophysiology:

Pathogenesis:

-       Glycogen storage disease type IV is an autosomal recessive genetic disorder which results due to deficiency of glycogen branching enzyme (GBE).[4]

-       During Glycogenesis, the branching enzyme introduces branches to growing glycogen chains by transferring α-1,4-linked glucose monomers from the outer end of a chain into an α-1,6 position of the same or neighboring glycogen chain. [6]

-       Deficiency of GBE affects the branching process, yielding a polysaccharide which has fewer branching points and longer outer chains, thus resembling amylopectin. This new amylopectin-like structure is also known as polyglucosan. [7]

-       The enzyme deficiency affects all the bodily tissues; but liver, heart, skeletal muscles, and the nervous system are mostly affected.

-       The abnormally branched glycogen accumulates as intracytoplasmic non membrane-bound inclusions in hepatocytes, myocytes, and neuromuscular system; where it increases osmotic pressure within cells, causing cellular swelling and death.[8][9]

-       The altered structure also renders glycogen to become less soluble, and this is thought to lead into a foreign body reaction causing fibrosis, and finally culminating in liver failure. [10][11]

-       In skeletal muscle, accumulation leads to muscle weakness, fatigue, exercise intolerance, and muscular atrophy. [12]

-       Regarding the heart, a wide spectrum of cardiomyopathy from dilated to hypertrophic and from asymptomatic to decompensated heart failure may occur. [13]

-       Although exact mechanism is not known, glycogen deposition in the myocardium is thought to initiate signaling pathways which cause sarcomeric hypertrophy, resulting in hypertrophic cardiomyopathy.[14] 

   

Molecular Genetics:

   •     Glycogen branching enzyme is a 702 amino acid protein encoded by GBE1 gene mapped to chromosome 3p12.2 and is transmitted as an autosomal recessive trait. [21][5] HUGO Gene Nomenclature Committee https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:4180 The Universal Protein Resource (UniProt) http://www.uniprot.org/uniprot/Q04446

    •       Mutations in the GBE1 are responsible for enzymatic deficiency, and so far 40 pathogenic variants have been identified in individuals with GSD IV or adult-onset polyglucosan body disease (APBD).PMID: 23285490 

CAUSES: 

The cause of GSD type IV is variable deficiency of glycogen branching enzyme. The deficiency is due to various mutations of GBE1 gene encoding the single polypeptide protein. 

Differential Diagnosis:

Comparisons may be useful for a differential diagnosis as a number of other disease conditions with clinical features may present similar to those associated with GSD Type IV.

Presenting as hepatomegaly in infancy, the following glycogen metabolism disorders should be differentiated from GSD Type IV;

-GSD Type I

-GSD Type III

-GSD Type VI

-Hepatic Phosphorylase b Kinase Deficiency

Metabolic disorders presenting with muscle weakness/myopathy during infancy should also be considered;

Muscle glycogen synthase deficiency (GSD0b)

Lysosomal acid maltase deficiency (GSD II)

Glycogen debrancher deficiency (GSD III)

Muscle phosphorylase deficiency (GSD V)

Aldolase A deficiency (GSD XII)

Glycogenin-1 deficiency (GSD XV)

 

EPIDEMIOLOGY:

FREQUENCY- The frequency of all glycogen storage diseases is estimated to be 1 in 20,000 to 25,000 live births, while GSD IV is estimated to occur in 1 in 600,000 to 800,000 individuals worldwide.  NORD GHR https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-iv#statistics

SEX- Males and females appear to be affected in relatively equal numbers [NORD] because the deficiency of glycogen-branching enzyme activity is inherited as an autosomal-recessive trait.

RACE- Familial aggregation is observed in about 30% of adult polyglucosan body disease cases especially among Ashkenazi Jewish populations. NORD

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

References

 

1.Structure of glycogens and amylopectins. III. Normal and abnormal human glycogen.

ILLINGWORTH B, CORI GT.

J Biol Chem. 1952 Dec;199(2):653-60

2. Familial cirrhosis of the liver with storage of abnormal glycogen.

ANDERSEN DH

Lab Invest. 1956 Jan-Feb; 5(1):11-20.

3. Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis.

Brown BI, Brown DH.

Proc Natl Acad Sci U S A. 1966 Aug;56(2):725-9. 

4. Hum Mol Genet. 2011 Feb 1;20(3):455-65. doi: 10.1093/hmg/ddq492. Epub 2010 Nov 12.

Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV. Lee YC¹, Chang CJ, Bali D, Chen YT, Yan YT.

5. Acta Myol. 2011 Oct; 30(2): 96–102.

PMCID: PMC3235878 Progress and problems in muscle glycogenoses

S. Di Mauro and R. Spiegel¹ 

6. Hum Mol Genet. 2015 Oct 15;24(20):5667-76. doi: 10.1093/hmg/ddv280. Epub 2015 Jul 21. 

7. PubMed: 15019703

Tay SK, Akman HO, Chung WK, Pike MG, Muntoni F, Hays AP, Shanske S, Valberg SJ, Mickelson JR, Tanji K, DiMauro S. Fatal infantile neuromuscular presentation of glycogen storage disease type IV. Neuromuscul Disord. 2004;14:253–60. 

8. Isolation of human glycogen branching enzyme cDNAs by screening complementation in yeast.

Thon VJ, Khalil M, Cannon JF

J Biol Chem. 1993 Apr 5; 268(10):7509-13.

9. Hum Pathol. 2012 Jun;43(6):943-51. doi: 10.1016/j.humpath.2011.10.001. Epub 2012 Feb 2. 

10. DOI: 10.1056/NEJM199101033240111

11. Severe cardiopathy enzyme deficiency in branching

Serenella Servidei, M.D., Roger E. Riepe, M.D., Claire Langston, M.D.,Lloyd Y: Tani, M.D., J. Timothy Bricker, M.D., Naoma Crisp-Lindgren, M.D.,Henry Travers, M.D., Dawna Armstrong, M.D., and

Salvatore DiMauro, M.D. 

12. National Organization for Rare Disorders (NORD): rarediseases.org/rare-diseases/andersen-disease-gsd-iv/

13. http://dx.doi.org/10.1155/2012/764286

14. DOI: 10.1056/NEJMra0902923 

15. Ann Neurol. 2012 Sep;72(3):433-41. doi: 10.1002/ana.23598. Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.

Mochel F¹, Schiffmann R, Steenweg ME, Akman HO, Wallace M, Sedel F, Laforêt P, Levy R, Powers JM, Demeret S, Maisonobe T, Froissart R, Da Nobrega BB, Fogel BL, Natowicz MR, Lubetzki C, Durr A, Brice A, Rosenmann H, Barash V, Kakhlon O, Gomori JM, van der Knaap MS, Lossos A. 

16. American Journal of Medical Genetics 139A:118–122 (2005)  

17. Bao, Y., Kishnani, P., Wu, J.-Y., Chen, Y.-T. Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. J. Clin. Invest. 97: 941-948, 1996. 

18. Neonatal presentation of lethal neuromuscular glycogen storage disease type IV L F Escobar, S Wagner, M Tucker & J Wareham Journal of Perinatology 32, 810–813 (2012) doi:10.1038/jp.2011.178 

19. Neonatal type IV glycogen storage disease associated with “null” mutations in glycogen branching enzyme 1 Andreas R.Janecke MD Susanne Dertinger MD Uwe-Peter Ketelsen MD Lothar Bereuter MD Burkhard Simma MD Thomas Müller MD Wolfgang Vogel MD Felix A. Offner MD

https://doi.org/10.1016/j.jpeds.2004.07.024  

20. Magoulas PL, El-Hattab AW. Glycogen Storage Disease Type IV. 2013 Jan 3. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK115333/  

21. World J Gastroenterol. 2007 May 14; 13(18): 2541–2553.

Published online 2007 May 14. doi:  10.3748/wjg.v13.i18.2541 PMCID: PMC4146814 Glycogen storage diseases: New perspectives Hasan Özen 

22. Glycogen branching enzyme deficiency in adult polyglucosan body disease.

Bruno C, Servidei S, Shanske S, Karpati G, Carpenter S, McKee D, Barohn RJ, Hirano M, Rifai Z, DiMauro S 

Ann Neurol. 1993;33(1):88.  

23. Adult polyglucosan body myopathy.

Goebel HH, Shin YS, Gullotta F, Yokota T, Alroy J, Voit T, Haller P, Schulz A

J Neuropathol Exp Neurol. 1992 Jan; 51(1):24-35. 

24. Ann Neurol. Author manuscript; available in PMC 2015 Feb 16.

Ann Neurol. 2012 Sep; 72(3): 433–441. doi:  10.1002/ana.23598 PMCID: PMC4329926 NIHMSID: NIHMS415710

Adult Polyglucosan Body Disease: Natural History and Key Magnetic Resonance Imaging Findings

Fanny Mochel, MD, PhD,^1,2,3,4 Raphael Schiffmann, MD,⁵ Marjan E. Steenweg, MD,⁶ Hasan O. Akman, PhD,⁷ Mary Wallace, RD,⁵ Frédéric Sedel, MD, PhD,^1,3,8 Pascal Laforêt, MD,^3,9 Richard Levy, MD, PhD,^4,10,11 J. Michael Powers, MD,¹² Sophie Demeret, MD,⁸ Thierry Maisonobe, MD,¹³ Roseline Froissart, PhD,¹⁴ Bruno Barcelos Da Nobrega, MD,¹⁵ Brent L. Fogel, MD, PhD,¹⁶ Marvin R. Natowicz, MD, PhD,¹⁷ Catherine Lubetzki, MD, PhD,^1,4,8 Alexandra Durr, MD, PhD,¹² Alexis Brice, MD,^1,2,4,8 Hanna Rosenmann, PhD,¹⁸ Varda Barash, PhD,¹⁹ Or Kakhlon, PhD,¹⁸ J. Moshe Gomori, MD,²⁰ Marjo S. van der Knaap, MD, PhD,⁶ and Alexander Lossos, MD¹⁸ 

25. PMID 8274116

Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV.

Lee YC¹, Chang CJ, Bali D, Chen YT, Yan YT.

5. Acta Myol. 2011 Oct; 30(2): 96–102.

PMCID: PMC3235878 Progress and problems in muscle glycogenoses

S. DiMauro and R. Spiegel¹ 

6. Hum Mol Genet. 2015 Oct 15;24(20):5667-76. doi: 10.1093/hmg/ddv280. Epub 2015 Jul 21. 

7. Neuromusc. Disord. 14: 253-260, 2004. [PubMed: 15019703