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Items: 9

1.

Glycogen storage disease type III

Glycogen storage disease type III (GSD III) is characterized by variable liver, cardiac muscle, and skeletal muscle involvement. GSD IIIa, the most common subtype present in about 85% of affected individuals, manifests with liver and muscle involvement; GSD IIIb, with liver involvement only, comprises about 15% of all GSD III. In infancy and early childhood, liver involvement presents as ketotic hypoglycemia, hepatomegaly, hyperlipidemia, and elevated hepatic transaminases. In adolescence and adulthood, liver disease becomes less prominent. Hypertrophic cardiomyopathy develops in the majority of those with GSD IIIa, usually during childhood. Its clinical significance ranges from asymptomatic in the majority to severe cardiac dysfunction, congestive heart failure, and rarely sudden death. Skeletal myopathy manifesting as weakness is not usually evident in childhood, but slowly progresses, typically becoming prominent in the third to fourth decade. [from GeneReviews]

MedGen UID:
6641
Concept ID:
C0017922
Disease or Syndrome
2.

Glycogen storage disease

A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement. [from MeSH]

MedGen UID:
6639
Concept ID:
C0017919
Disease or Syndrome
3.

Glycogen storage disease due to glycogen debranching enzyme deficiency

Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy. [from ORDO]

MedGen UID:
831145
Concept ID:
CN204781
Disease or Syndrome
4.

Spondylometaepiphyseal dysplasia short limb-hand type

MedGen UID:
338595
Concept ID:
C1849011
Disease or Syndrome
5.

Ketotic hypoglycemia

Low blood glucose is accompanied by elevated levels of ketone bodies in the body. [from HPO]

MedGen UID:
808120
Concept ID:
CN185438
Finding
6.

Ketotic hypoglycemia

Low blood glucose is accompanied by elevated levels of ketone bodies in the body. [from HPO]

MedGen UID:
543512
Concept ID:
C0271713
Disease or Syndrome
7.

Skeletal myopathy

MedGen UID:
375542
Concept ID:
C1844915
Finding
8.

Glycogen storage disease IIIb

MedGen UID:
369843
Concept ID:
C1968740
Disease or Syndrome
9.

Glycogen storage disease IIIa

MedGen UID:
369842
Concept ID:
C1968739
Disease or Syndrome
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