Complex glycerol kinase deficiency – long-term follow-up of two patients

Beata Wikiera; Aleksandra Jakubiak; Izabela Łaczmanska; Anna Noczyńska; Robert Śmigiel

doi:10.5114/pedm.2021.109681

eISSN: 2083-8441
ISSN: 2081-237X

Pediatric Endocrinology Diabetes and Metabolism

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abstract:

Case report

Complex glycerol kinase deficiency – long-term follow-up of two patients

Beata Wikiera

¹

,

Aleksandra Jakubiak

²

,

Izabela Łaczmanska

³

,

Anna Noczyńska

¹

,

Robert Śmigiel

²

Department of Endocrinology and Diabetology for Children and Adolescents, Wroclaw Medical University, Poland
Department of Paediatric, Division of Propaedeutic of Paediatrics and Rare Disorders, Wroclaw Medical University, Poland
Department of Genetics, Wroclaw Medical University, Poland

Pediatr Endocrinol Diabetes Metab 2021; 27 (3): 227–231

DOI: https://doi.org/10.5114/pedm.2021.109681

Online publish date: 2021/09/30

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Complex glycerol kinase deficiency (CGKD) is a rare genetic syndrome which belongs to the group of contiguous gene syndromes and is caused by microdeletion of genes located in Xp21. Patients with CGKD present with features characteristic for adrenal hypoplasia, glycerol kinase deficiency, Duchenne muscular dystrophy and sometimes intellectual disability. We present a long-term follow-up of two unrelated boys with molecular diagnosis of complex glycerol kinase deficiency. Genetic examinations in both patients revealed a deletion on Xp21 chromosome including complete deletion of NR0B1 and GK genes. Additionally in patient 2 IL1RAPL1 genes were deleted. In separate MLPA test DMD gene deletion was diagnosed in both patients as follow: in patient 1 whole gene while in patient 2 the C-terminal region of DMD was deleted. Although the first symptom in both was salt loss syndrome, the course of the disease was different for them. We share our experience resulting from the opportunity of caring for patients with this rare disease from the beginning of their life to the end of pediatric care.

keywords:

Complex glycerol kinase deficiency – long-term follow-up of two patients

Beata Wikiera 1 , Aleksandra Jakubiak 2 , Izabela Łaczmanska 3 , Anna Noczyńska 1 , Robert Śmigiel 2

glycerol kinase deficiency, congenital adrenal hypoplasia, muscular dystrophy

Beata Wikiera

¹

,

Aleksandra Jakubiak

²

,

Izabela Łaczmanska

³

,

Anna Noczyńska

¹

,

Robert Śmigiel

²