Glycogen storage disease due to acid maltase deficiency, infantile onset

General Information (adopted from Orphanet):

Synonyms, Signs: Glycogenosis type 2, infantile onset
Pompe disease, infantile onset
GSD type 2, infantile onset
Glycogen storage disease type 2, infantile onset
Alpha-1,4-glucosidase acid deficiency, infantile onset
Glycogenosis due to acid maltase deficiency, infantile onset
GSD due to acid maltase deficiency, infantile onset
Number of Symptoms 25
OrphanetNr: 308552
OMIM Id: 232300
ICD-10: E74.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2.5 of 100 000 - PMID: 24016645 [IBIS]
Inheritance: Autosomal recessive
- PMID: 26894045 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Glycogen storage disease due to acid maltase deficiency
 -Rare cardiac disease
 -Rare genetic disease
 -Rare neurologic disease

Comment:

Pompe disease is generally classified based on the age of onset as infantile (IOPD) when it presents during the first year of life, and late onset (LOPD) when it presents afterwards. Childhood, juvenile and adult-onset Pompe disease are examples of the late onset form. IOPD associated with cardiomyopathy is referred to as classic Pompe disease and in the absence of cardiomyopathy as non-classic Pompe disease. (PMID:25037089). A large scale newborn screening program indicates that certain clinical manifestations (hypotonia, high CK, enlarged LVMI (left ventricular mass index, and extremely low GAA enzyme activity in initial dried blood spot analysis) can help in the rapid and effective differentiation of patients with IOPD from other patient with low GAA activity (PMID:24243590). Pompe disease is a rare disease with a prevalence of 1/40.000 in the dutch and african-american populations and 1/46000 in the australian population (PMID:24016645).

Symptom Information: Sort by abundance 

1
 (HPO:0000020) Urinary incontinence 25763511 IBIS 75 / 7739
2
 (HPO:0000158) Macroglossia 25037089 IBIS 119 / 7739
3
 (HPO:0000539) Abnormality of refraction 25763511 IBIS 6 / 7739
4
 (HPO:0002015) Dysphagia 25763511 IBIS 301 / 7739
5
 (HPO:0001263) Global developmental delay 25763511 IBIS 853 / 7739
6
 (HPO:0001270) Motor delay 24243590 IBIS 322 / 7739
7
 (HPO:0100543) Cognitive impairment 25763511 IBIS 230 / 7739
8
 (HPO:0011968) Feeding difficulties 25763511 IBIS 240 / 7739
9
 (HPO:0009113) Diaphragmatic weakness 25763511 IBIS 12 / 7739
10
 (HPO:0002607) Bowel incontinence 25763511 IBIS 33 / 7739
11
 (HPO:0002240) Hepatomegaly 25037089 IBIS 467 / 7739
12
 (HPO:0002020) Gastroesophageal reflux 25763511 IBIS 101 / 7739
13
 (HPO:0001508) Failure to thrive 25037089 IBIS 454 / 7739
14
 (HPO:0001712) Left ventricular hypertrophy 24243590 IBIS 76 / 7739
15
 (HPO:0002617) Aneurysm 25763511 IBIS 34 / 7739
16
 (HPO:0011675) Arrhythmia 25763511 IBIS 226 / 7739
17
 (HPO:0001640) Cardiomegaly 25763511 IBIS 81 / 7739
18
 (HPO:0001639) Hypertrophic cardiomyopathy 25037089 IBIS 137 / 7739
19
 (HPO:0004356) Abnormality of lysosomal metabolism 25037089 IBIS 6 / 7739
20
 (HPO:0003236) Elevated serum creatine phosphokinase 24243590 IBIS 214 / 7739
21
 (HPO:0002093) Respiratory insufficiency 25037089 IBIS 410 / 7739
22
 (HPO:0003690) Limb muscle weakness Very frequent [IBIS] 25037089 IBIS 41 / 7739
23
 (HPO:0001252) Muscular hypotonia 25037089 IBIS 990 / 7739
24
 (HPO:0003323) Progressive muscle weakness 25037089 IBIS 17 / 7739
25
 (HPO:0009051) Increased muscle glycogen content 25037089 IBIS 8 / 7739

Associated genes:

GAA;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
GAA rs121907936 pathogenic RCV000004236.3
GAA rs121907937 pathogenic RCV000004237.3
GAA rs121907939 pathogenic RCV000004243.2
GAA rs121907940 pathogenic RCV000004240.2
GAA rs28940868 pathogenic RCV000004244.3

Additional Information: