MCID: GLY052
MIFTS: 21

Glycogen Storage Disease Due to Acid Maltase Deficiency, Infantile Onset

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Glycogen Storage Disease Due to Acid Maltase Deficiency,...

MalaCards integrated aliases for Glycogen Storage Disease Due to Acid Maltase Deficiency, Infantile Onset:

Name: Glycogen Storage Disease Due to Acid Maltase Deficiency, Infantile Onset 58
Glycogenosis Due to Acid Maltase Deficiency, Infantile Onset 58
Alpha-1,4-Glucosidase Acid Deficiency, Infantile Onset 58
Gsd Due to Acid Maltase Deficiency, Infantile Onset 58
Glycogen Storage Disease Type Ii, Infantile Onset 58
Glycogen Storage Disease Type 2, Infantile Onset 58
Glycogenosis Type Ii, Infantile Onset 58
Glycogenosis Type 2, Infantile Onset 58
Pompe Disease, Infantile Onset 58
Gsd Type Ii, Infantile Onset 58
Gsd Type 2, Infantile Onset 58

Characteristics:

Orphanet epidemiological data:

58
glycogen storage disease due to acid maltase deficiency, infantile onset
Inheritance: Autosomal recessive; Age of onset: Antenatal,Infancy,Neonatal; Age of death: early childhood,infantile;

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Glycogen Storage Disease Due to Acid Maltase Deficiency,...

MalaCards based summary : Glycogen Storage Disease Due to Acid Maltase Deficiency, Infantile Onset, is also known as glycogenosis due to acid maltase deficiency, infantile onset. An important gene associated with Glycogen Storage Disease Due to Acid Maltase Deficiency, Infantile Onset is GAA (Alpha Glucosidase). The drugs Miglustat and Glycoside Hydrolase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include heart and tongue, and related phenotypes are failure to thrive and hepatomegaly

Related Diseases for Glycogen Storage Disease Due to Acid Maltase Deficiency,...

Symptoms & Phenotypes for Glycogen Storage Disease Due to Acid Maltase Deficiency,...

Human phenotypes related to Glycogen Storage Disease Due to Acid Maltase Deficiency, Infantile Onset:

58 31 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
3 feeding difficulties in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008872
4 cardiomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001640
5 hypertrophic cardiomyopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001639
6 elevated serum creatine kinase 58 31 hallmark (90%) Very frequent (99-80%) HP:0003236
7 left ventricular hypertrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001712
8 oligosacchariduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0010471
9 infantile muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008947
10 left ventricular outflow tract obstruction 58 31 hallmark (90%) Very frequent (99-80%) HP:0032092
11 delayed ability to sit 58 31 hallmark (90%) Very frequent (99-80%) HP:0025336
12 multifocal hyperintensity of cerebral white matter on mri 58 31 hallmark (90%) Very frequent (99-80%) HP:0040329
13 delayed ability to stand 58 31 hallmark (90%) Very frequent (99-80%) HP:0025335
14 elevated serum alanine aminotransferase 58 31 hallmark (90%) Very frequent (99-80%) HP:0031964
15 increased lactate dehydrogenase level 31 hallmark (90%) HP:0025435
16 macroglossia 58 31 frequent (33%) Frequent (79-30%) HP:0000158
17 respiratory insufficiency due to muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0002747
18 areflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001284
19 respiratory failure 58 31 frequent (33%) Frequent (79-30%) HP:0002878
20 respiratory failure requiring assisted ventilation 58 31 frequent (33%) Frequent (79-30%) HP:0004887
21 respiratory distress 58 31 frequent (33%) Frequent (79-30%) HP:0002098
22 generalized muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003324
23 respiratory tract infection 58 31 frequent (33%) Frequent (79-30%) HP:0011947
24 proximal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003701
25 facial hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0000297
26 heart murmur 58 31 frequent (33%) Frequent (79-30%) HP:0030148
27 low-output congestive heart failure 58 31 frequent (33%) Frequent (79-30%) HP:0009805
28 shortened pr interval 58 31 frequent (33%) Frequent (79-30%) HP:0005165
29 difficulty in tongue movements 58 31 frequent (33%) Frequent (79-30%) HP:0000183
30 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
31 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
32 muscle weakness 58 Very frequent (99-80%)
33 respiratory insufficiency 58 Frequent (79-30%)
34 motor delay 58 Frequent (79-30%)
35 abnormal enzyme/coenzyme activity 58 Very frequent (99-80%)
36 increased lactate dehydrogenase activity 58 Very frequent (99-80%)

Drugs & Therapeutics for Glycogen Storage Disease Due to Acid Maltase Deficiency,...

Drugs for Glycogen Storage Disease Due to Acid Maltase Deficiency, Infantile Onset (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miglustat Approved Phase 3 72599-27-0 51634
2 Glycoside Hydrolase Inhibitors Phase 3
3 Anti-Retroviral Agents Phase 3
4 Antiviral Agents Phase 3
5 Anti-HIV Agents Phase 3
6 Cardiac Glycosides Phase 3
7 Anti-Infective Agents Phase 3
8 Hypoglycemic Agents Phase 3
9
1-Deoxynojirimycin Investigational 19130-96-2 1374

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 3/4, Prospective, Multinational, Open-label, Noninferiority Study of Alglucosidase Alfa Manufactured at the 160 L and 4000 L Scales in Treatment Naïve Patients With Infantile-Onset Pompe Disease Terminated NCT01597596 Phase 4
2 An Open-label Study to Evaluate the Safety, Pharmacokinetics, Efficacy, Pharmacodynamics, and Immunogenicity of Cipaglucosidase Alfa/Miglustat in Both ERT-experienced and ERT-naïve Pediatric Subjects With Infantile-onset Pompe Disease Aged 0 to < 18 Years Not yet recruiting NCT04808505 Phase 3 Miglustat (AT2221)
3 A Multicenter, Open-Label Extension Study of the Long-Term Safety and Efficacy of Recombinant Human Acid α-Glucosidase (rhGAA) in Patients With Pompe Disease (Glycogen Storage Disease Type II) Who Were Previously Enrolled in Genzyme-Sponsored Enzyme Replacement Therapy Studies Completed NCT00763932 Phase 2
4 Acute and Long Term Evaluation of Exercise Capacity in Response to Enzyme Replacement Therapy in Pediatric Pompe Disease. Recruiting NCT04755751
5 Expanded Use Of Recombinant Human Acid Alpha-Glucosidase/N-butyl-deoxynojirimycin (ATB200/AT2221) For Patients With Infantile-Onset Pompe Disease Available NCT04327973 AT2221

Search NIH Clinical Center for Glycogen Storage Disease Due to Acid Maltase Deficiency, Infantile Onset

Genetic Tests for Glycogen Storage Disease Due to Acid Maltase Deficiency,...

Anatomical Context for Glycogen Storage Disease Due to Acid Maltase Deficiency,...

MalaCards organs/tissues related to Glycogen Storage Disease Due to Acid Maltase Deficiency, Infantile Onset:

40
Heart, Tongue

Publications for Glycogen Storage Disease Due to Acid Maltase Deficiency,...

Articles related to Glycogen Storage Disease Due to Acid Maltase Deficiency, Infantile Onset:

# Title Authors PMID Year
1
Cough Effectiveness and Pulmonary Hygiene Practices in Patients with Pompe Disease. 61
30361764 2019

Variations for Glycogen Storage Disease Due to Acid Maltase Deficiency,...

Expression for Glycogen Storage Disease Due to Acid Maltase Deficiency,...

Search GEO for disease gene expression data for Glycogen Storage Disease Due to Acid Maltase Deficiency, Infantile Onset.

Pathways for Glycogen Storage Disease Due to Acid Maltase Deficiency,...

GO Terms for Glycogen Storage Disease Due to Acid Maltase Deficiency,...

Sources for Glycogen Storage Disease Due to Acid Maltase Deficiency,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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