Hepatomegaly with neutropenia: a girl with glycogen storage disease Ib

BMJ Case Rep. 2019 Jul 18;12(7):e230660. doi: 10.1136/bcr-2019-230660.

Authors

Deepanjan Bhattacharya¹, Anil Kumar Bn¹, Inusha Panigrahi¹, Anupriya Kaur¹

Affiliation

¹ Department of Paediatrics, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.

No abstract available

Keywords: genetics; paediatrics.

Publication types

Case Reports

MeSH terms

Antiporters / genetics
Female
Genetic Testing
Glycogen Storage Disease Type I / complications*
Glycogen Storage Disease Type I / diagnosis
Glycogen Storage Disease Type I / genetics
Glycogen Storage Disease Type I / therapy
Hair Color
Hepatomegaly / etiology*
Humans
Hypopigmentation / etiology
Infant
Monosaccharide Transport Proteins / genetics
Neutropenia / etiology*
Respiratory Tract Infections / etiology
Starch / therapeutic use

Substances

Antiporters
Monosaccharide Transport Proteins
SLC37A4 protein, human
Starch

Supplementary concepts

Glycogen Storage Disease IB