Indian Journal of Pediatrics (January 2024) 91(1):100

https://doi.org/10.1007/s12098-023-04718-2

CORRESPONDENCE

Glycogen Storage Disease Type IXb in a 3‑y‑old Child

Saumya Jain1 · Milind S. Tullu1 · Mamta N. Muranjan1 · Sunil Karande1

Received: 17 April 2023 / Accepted: 5 June 2023 / Published online: 23 June 2023
© The Author(s), under exclusive licence to Dr. K C Chaudhuri Foundation 2023

To the Editor: Glycogen storage disease type IXb (GSD
IXb) is characterized by phosphorylase kinase deficiency
of liver and muscle [1]. It is an autosomal recessive disor-
der caused by mutations in the PHKB gene located on long
arm (q) of chromosome 16 (16q12.1) [2]. A three-year-old
male child presented with abdominal distension since 8
mo of age. Abdominal distension was progressive, initially
noticed in upper abdomen and later became generalised
over next 1.5 y. The child was developmentally normal. His
height was 88 cm (<-3 SD) (stunted) and he had doll-like
facies. The abdomen was distended with firm hepatomegaly
(7 cm; span 12 cm; left lobe palpable 2 cm). Investigations
showed transaminitis (SGOT- 185 U/L; SGPT- 163 U/L)
with metabolic acidosis (bicarbonate 10.1 mmol/L) and
normal levels of serum lactate, ammonia, triglycerides and
cholesterol. Ultrasonography revealed hepatomegaly with
altered liver echotexture. With suspicion of storage disorder,
hypoglycemia was induced (by fasting for 14 h); and the
test showed fasting glucose of 47 mg/dl (normal: 70–99 mg/
dl) i.e., hypoglycemia with urine ketones of 2+. Whole
exome sequence confirmed diagnosis of GSD Type IXb,
caused by homozygous variant of PHKB (+) gene [variant
c.1127-2A>G, (Pathogenic; according to ACMG classi-
fication)]. Parents were counselled and patient’s diet was
modified to include corn-starch with a diet high in complex
carbohydrates and proteins. The parents were also advised
for glucose monitoring during period of illnesses, liver func-
tion testing every 6 monthly, ultrasonography of abdomen
yearly and for carrier testing of parents and siblings. After
4 mo follow-up, the child is doing well with no increase in
the liver size, adequate growth and normal development.
We conclude that early diagnosis, dietary modifications and
counselling of parents regarding the disease, are important
measures that can be taken to improve the quality of life and
halt the progression of this rare disease [3, 4].
Acknowledgements The authors thank Dr. Sangeeta Ravat, Dean- Seth
G.S. Medical College & KEM Hospital for granting permission to
publish this manuscript.
Declarations
Conflict of Interest None.
References
1. Beauchamp NJ, Dalton A, Ramaswami U, et al. Glycogen storage
disease type IX: high variability in clinical phenotype. Mol Genet
Metab. 2007;92:88–99.
2. Roscher A, Patel J, Hewson S, et al. The natural history of
glycogen storage disease types VI and IX: long-term outcome
from the largest metabolic center in Canada. Mol Genet Metab.
2014;113:171–6.
3. Massese M, Tagliaferri F, Dionisi-Vici C, Maiorana A. Glycogen
storage diseases with liver involvement: a literature review of
GSD type 0, IV, VI, IX and XI. Orphanet J Rare Dis. 2022;17:241.
4. Hodax JK, Uysal S, Quintos JB, Phornphutkul C. Glycogen stor-
age disease type IX and growth hormone deficiency presenting
as severe ketotic hypoglycemia. J Pediatr Endocrinol Metab.
2017;30:247–51.
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* Milind S. Tullu
milindtullu@yahoo.com
1
Department of Pediatrics, Seth Gordhandas Sunderdas
Medical College & King Edward Memorial Hospital, Parel,
Mumbai, Maharashtra 400012, India

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