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 › peer-review

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

Access to Document

10.1515/jpem-2019-0162

Fingerprint Dive into the research topics of 'A neonate with mucolipidosis II and transient secondary hyperparathyroidism'. Together they form a unique fingerprint.

Cite this

@article{d05f2802413b480fa3a6740c4142be71,

title = "A neonate with mucolipidosis II and transient secondary hyperparathyroidism",

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.",

keywords = "I-cell disease, ML II, mucolipidosis II, secondary hyperparathyroidism",

author = "Carlos Leyva and Buch, {Maria M} and Wierenga, {Klaas J.} and Gary Berkovitz and Tossaporn Seeherunvong",

year = "2019",

month = jan,

day = "1",

doi = "10.1515/jpem-2019-0162",

language = "English (US)",

journal = "Journal of Pediatric Endocrinology and Metabolism",

issn = "0334-018X",

publisher = "Walter de Gruyter GmbH & Co. KG",

}

TY - JOUR

T1 - A neonate with mucolipidosis II and transient secondary hyperparathyroidism

AU - Leyva, Carlos

AU - Buch, Maria M

AU - Wierenga, Klaas J.

AU - Berkovitz, Gary

AU - Seeherunvong, Tossaporn

PY - 2019/1/1

Y1 - 2019/1/1

N2 - 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.

AB - 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.

KW - I-cell disease

KW - ML II

KW - mucolipidosis II

KW - secondary hyperparathyroidism

UR - http://www.scopus.com/inward/record.url?scp=85075950026&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85075950026&partnerID=8YFLogxK

U2 - 10.1515/jpem-2019-0162

DO - 10.1515/jpem-2019-0162

M3 - Article

C2 - 31758855

AN - SCOPUS:85075950026

JO - Journal of Pediatric Endocrinology and Metabolism

JF - Journal of Pediatric Endocrinology and Metabolism

SN - 0334-018X

ER -