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

2 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

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1515/jpem-2019-0162

Cite this

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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.",

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

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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

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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

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JO - Journal of Pediatric Endocrinology and Metabolism

JF - Journal of Pediatric Endocrinology and Metabolism

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A neonate with mucolipidosis II and transient secondary hyperparathyroidism

Abstract

Keywords

ASJC Scopus subject areas

UN SDGs

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