Related Experiment Video
Updated: Aug 5, 2025

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
Published on: March 23, 2022
Hypoparathyroidism and medium-chain Acyl-CoA dehydrogenase deficiency, an unusual association
Isabel Huguet1, Guillermo Martínez Díaz-Guerra2
1Hospital Infanta Leonor, Madrid, Spain.
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 inappropriately normal level of intact parathyroid hormone. Main etiologies of primary HypoPT were excluded, so it was suspected to be related to MCAD deficiency.
Conclusions:
The association of fatty acid oxidation disorders and HypoPT has been previously described in the literature, but its link to MCAD deficiency has only been reported once. We present the second case describing the coexistence of both rare diseases. Since HypoPT can be a life-threatening condition, we suggest calcium levels be assessed in these patients on a regular basis. Further research is needed to better understand this complex association.
Related Concept Videos
Inborn Errors of Metabolism
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Chronic Pancreatitis I: Introduction
Pancreatitis is the inflammation of the pancreas, which occurs when the immune system becomes active and causes swelling, pain, and disruptions in organ function. Pancreatitis can manifest as either an acute or chronic condition.
Acute pancreatitis arises suddenly and lasts for a brief duration, while chronic pancreatitis is a long-term affliction...
Acute Respiratory Failure-III
Overview of Protein Metabolism
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
The Parathyroid Glands
Oxyphil cells, whose functions remain elusive, emerge during late puberty, adding a layer of complexity to the parathyroid gland's intricacies. In contrast, principal parathyroid cells undertake a vital role by...

