Balkan Journal of Medical Genetics

GALACTOSIALIDOSIS IN A NEWBORN WITH A NOVEL MUTATION IN THE CTSA GENE PRESENTING WITH TRANSIENT HYPERPARATHYROIDISM
Okulu E1,*, Tunc G1, Eminoglu T2, Erdeve O1, Atasay B1, Arsan S1
*Corresponding Author: Emel Okulu, M.D., Department of Pediatrics, Division of Neonatology, Ankara University School of Medicine, Tip Fakultesi Street, 06620 Mamak, Ankara, Turkey. Tel: +90-312-595-6599. Fax: +90-312-319-1440. E-mail: emelokulu@gmail.com
page: 95

INTRODUCTION

Galactosialidosis is a lysosomal storage disease caused by deficiency of protective protein/cathepsin A (PPCA). This protein forms a complex with β-galactosidase and α-neuraminidase, and has a distinct protective and catalytic function. Protective protein/cathepsin A is encoded on chrosome 20, and mutations of this gene have been reported. Galactosialidosis is an autosomal recessive inherited disease and has been divided into three subtypes based on age of onset and the severity of clinical manifestations. All three forms of the disease are considered rare, and the most severe form is the early infantile form [1-4]. We herein report a new novel homozygous mutation for the cathepsin A (CTSA) gene in a Turkish newborn with galactosialidosis and transient hyperparathyroidism. Case Report. The female newborn was born at term, by cesarean section because of fetal bradycardia, as the first child of healthy consanguineous parents, with a birth weight of 3050 g (50 percentile) a length of 50 cm (50-75 percentile) and a head circumference of 36 cm (90 percentile). Their first pregnancy had ended in abortion, and the second was terminated with in utero exitus at 26 weeks’ gestation when cardiomegaly and polyhydroamnios had been detected. The infant was admitted to the neonatal intensive care unit at another center with respiratory insufficiency on the first day of life. She had convulsions and was referred to our hospital on the fifth day of her life. Physical examination on admission showed a coarse face, hepatosplenomegaly, hypotonia, increased deep tendon reflexes of lower extremities (Figure 1). Laboratory tests revealed anemia [hemoglobin (Hb) 9.0 g/dL], neutropenia [white blood cell (WBC) count 3.920/mm3], hypocalcemia (6.9 mg/ dL; reference range 8.7-10.4 mg/dL), hypophosphatemia (3.48 mg/dL; reference range 4.5-6.5 mg/dL) and elevated alkaline phosphatase (ALP) levels (747.0 U/L; reference range 122.0-473.0 U/L). On further investigation, serum parathormone (PTH) was markedly elevated (676.2 pg/L; reference range 11.0-67.0 pg/L) whereas serum 25-hydroxyvitamin D [25(OH)D] was normal (31.0 ng/mL; reference range 20.0-60.0 ng/mL). Vitamin D3 (1000.0 U ergocalciferol/day) and calcium (150.0 mg/kg/d) therapies were initiated orally. Although serum calcium and phosphate reached normal levels on following days, the alkaline phosphatase (ALP) level slightly increased (854.0 U/L), PTH remained high (but decreased) (301.0 pg/mL) and serum 25(OH)D was normal (23.3 ng/mL). Abdominal ultrasonography demonstrated splenomegaly. An echocardiogram detected ventricular septal defect and pulmonary stenosis. Ophtalmological evaluation revealed albinoid appearance on the maculae. Clinical and laboratory findings suggested the lysosomal storage disease. The β-galactosidase activity was as low as 5.62 nmoL/h/mL (normal range 85.4 ± 22.7). The activities of other lysosomal enzymes were normal. No mutation on the GLB1 gene was detected. A homozygous mutation on the CTSA gene, p.F191Pfs*39 (c.569_570 delTT) was identified by genetic analysis. Secondary hyperparathyroidism in the infant was resolved biochemically at 5 months of age, but she suffered recurrent aspiration pneumonias and died at 8 months of age. An informed consent was obtained from the family.

Number 27 VOL. 27 (2), 2024	Number 27 VOL. 27 (1), 2024
Number 26 Number 26 VOL. 26(2), 2023 All in one	Number 26 VOL. 26(2), 2023
Number 26 VOL. 26, 2023 Supplement	Number 26 VOL. 26(1), 2023
Number 25 VOL. 25(2), 2022	Number 25 VOL. 25 (1), 2022
Number 24 VOL. 24(2), 2021	Number 24 VOL. 24(1), 2021
Number 23 VOL. 23(2), 2020	Number 22 VOL. 22(2), 2019
Number 22 VOL. 22(1), 2019	Number 22 VOL. 22, 2019 Supplement
Number 21 VOL. 21(2), 2018	Number 21 VOL. 21 (1), 2018
Number 21 VOL. 21, 2018 Supplement	Number 20 VOL. 20 (2), 2017
Number 20 VOL. 20 (1), 2017	Number 19 VOL. 19 (2), 2016
Number 19 VOL. 19 (1), 2016	Number 18 VOL. 18 (2), 2015
Number 18 VOL. 18 (1), 2015	Number 17 VOL. 17 (2), 2014
Number 17 VOL. 17 (1), 2014	Number 16 VOL. 16 (2), 2013
Number 16 VOL. 16 (1), 2013	Number 15 VOL. 15 (2), 2012
Number 15 VOL. 15, 2012 Supplement	Number 15 Vol. 15 (1), 2012
Number 14 14 - Vol. 14 (2), 2011	Number 14 The 9th Balkan Congress of Medical Genetics
Number 14 14 - Vol. 14 (1), 2011	Number 13 Vol. 13 (2), 2010
Number 13 Vol.13 (1), 2010	Number 12 Vol.12 (2), 2009
Number 12 Vol.12 (1), 2009	Number 11 Vol.11 (2),2008
Number 11 Vol.11 (1),2008	Number 10 Vol.10 (2), 2007
Number 10 10 (1),2007	Number 9 1&2, 2006
Number 9 3&4, 2006	Number 8 1&2, 2005
Number 8 3&4, 2004	Number 7 1&2, 2004
Number 6 3&4, 2003	Number 6 1&2, 2003
Number 5 3&4, 2002	Number 5 1&2, 2002
Number 4 Vol.3 (4), 2000	Number 4 Vol.2 (4), 1999
Number 4 Vol.1 (4), 1998	Number 4 3&4, 2001
Number 4 1&2, 2001	Number 3 Vol.3 (3), 2000
Number 3 Vol.2 (3), 1999	Number 3 Vol.1 (3), 1998
Number 2 Vol.3(2), 2000	Number 2 Vol.1 (2), 1998
Number 2 Vol.2 (2), 1999	Number 1 Vol.3 (1), 2000
Number 1 Vol.2 (1), 1999	Number 1 Vol.1 (1), 1998

About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact