A neonate with mucolipidosis II and transient secondary hyperparathyroidism

Carlos Leyva; Maria M Buch; Klaas J. Wierenga; Gary Berkovitz; Tossaporn Seeherunvong

doi:10.1515/jpem-2019-0162

A neonate with mucolipidosis II and transient secondary hyperparathyroidism

Carlos Leyva, Maria M Buch, Klaas J. Wierenga, Gary Berkovitz, Tossaporn Seeherunvong

Pediatrics

Research output: Contribution to journal › Article

1 Scopus citations

Abstract

Mucolipidosis II α/β (ML II) is an autosomal recessive disease associated with the abnormality of lysosomal enzyme trafficking. 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.

Original language	English (US)
Journal	Journal of Pediatric Endocrinology and Metabolism
DOIs	https://doi.org/10.1515/jpem-2019-0162
State	Accepted/In press - Jan 1 2019

Keywords

I-cell disease
ML II
mucolipidosis II
secondary hyperparathyroidism

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Endocrinology, Diabetes and Metabolism
Endocrinology

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Leyva, C., Buch, M. M., Wierenga, K. J., Berkovitz, G., & Seeherunvong, T. (Accepted/In press). A neonate with mucolipidosis II and transient secondary hyperparathyroidism. Journal of Pediatric Endocrinology and Metabolism. https://doi.org/10.1515/jpem-2019-0162

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