A neonate with mucolipidosis II and transient secondary hyperparathyroidism

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

Research output: Contribution to journalArticle

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 languageEnglish (US)
JournalJournal of Pediatric Endocrinology and Metabolism
DOIs
StateAccepted/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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