A neonate with mucolipidosis II and transient secondary hyperparathyroidism
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Carlos Leyva
Abstract
Background
Mucolipidosis II α/β (ML II) is an autosomal recessive disease associated with the abnormality of lysosomal enzyme trafficking.
Case presentation
We present an unusual patient with: (a) marked skeletal anomalies with secondary hyperparathyroidism; (b) serum intact parathyroid hormone level normalized by 7 weeks but abnormally elevated serum alkaline phosphate persisted; and (c) two mutations identified in the GNPTAB gene. One mutation, c.3503_3504delTC, is the most common mutation in ML II. However, the second mutation, c.2896delA, is a rare mutation for which clinical presentation has not been described previously.
Acknowledgments
None.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: There were no competing interests.
References
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©2019 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
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Artikel in diesem Heft
- Frontmatter
- Mini Review
- Can preimplantation genetic diagnosis be used for monogenic endocrine diseases?
- Original Articles
- The distribution of intrafamilial CYP21A2 mutant alleles and investigation of clinical features in Turkish children and their siblings in Southeastern Anatolia
- 3-Methylcrotonyl-CoA carboxylase deficiency newborn screening in a population of 536,008: is routine screening necessary?
- Long non-coding RNA HCP5 serves as a ceRNA sponging miR-17-5p and miR-27a/b to regulate the pathogenesis of childhood obesity via the MAPK signaling pathway
- Once-weekly supervised combined training improves neurocognitive and psychobehavioral outcomes in young patients with type 1 diabetes mellitus
- Associations between thyroid-stimulating hormone, blood pressure and adiponectin are attenuated in children and adolescents with overweight or obesity
- Mental health of both child and parents plays a larger role in the health-related quality of life of obese and overweight children
- Near final adult height, and body mass index in overweight/obese and normal-weight children with idiopathic central precocious puberty and treated with gonadotropin-releasing hormone analogs
- Effects of vitamin D and estrogen receptor polymorphisms on bone mineral density in adolescents with anorexia nervosa
- Case Reports
- Whole exome sequencing identified a heterozygous KCNJ2 missense variant underlying autosomal dominant familial hypokalemic periodic paralysis in a Pakistani family
- Infantile cerebral infarction caused by severe diabetic ketoacidosis in new-onset type 1 diabetes mellitus
- Gallstone formation due to rapid weight loss through hyperthyroidism
- A neonate with mucolipidosis II and transient secondary hyperparathyroidism
- Zoledronate-responsive calcitriol-mediated hypercalcemia in a 5-year-old case with squamous cell carcinoma on the background of xeroderma pigmentosum
