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Article

Hypoparathyroidism and medium-chain Acyl-CoA dehydrogenase deficiency, an unusual association.

Journal of pediatric endocrinology & metabolism : JPEM - 25 May 2023

Huguet Isabel, Díaz-Guerra Guillermo Martínez

Abstract excerpt

OBJECTIVES: Hypoparathyroidism (HypoPT) is a rare disorder and non-surgical cases require careful evaluation, since may be due to genetic, autoimmune, or metabolic factors. CASE PRESENTATION: We present a 15-year-old girl with a previous diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency due to G985A homozygous mutation. She was admitted to the emergency department with severe hypocalcaemia and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 36972207
DOI: 10.1515/jpem-2023-0011

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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