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case_report·pediatrics, pediatric ophthalmology, ophthalmology, cataract surgery, clinical nutrition·PMC10564565

The First Reported Case of a Child with Two Different Rare Metabolic Disorders: Very Long-Chain Acyl-CoA Dehydrogenase Deficiency and Encephalomyopathic Mitochondrial DNA Depletion Syndrome 13

Global Medical Genetics · 6 authors, 3 centres

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TL;DR

Whole-exome sequencing revealed he had two distinct genetic metabolic disorders: VLCAD deficiency and FBXL4-related encephalomyopathic mtDNA depletion syndrome 13.

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The patient was born to consanguineous parents. The case is presented as the first report of these two rare disorders co-occurring in a single patient. The implications suggest that complex or atypical phenotypes in inherited metabolic disorders may warrant investigation for multiple genetic causes.

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case_report

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pediatrics

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ORIGINAL PAPER

PMC10564565

The First Reported Case of a Child with Two Different Rare Metabolic Disorders: Very Long-Chain Acyl-CoA Dehydrogenase Deficiency and Encephalomyopathic Mitochondrial DNA Depletion Syndrome 13

Global Medical Genetics

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ABSTRACT

Abstract One of the most common inborn errors in fatty acid β oxidation (FAO) is a very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency. It is autosomal recessive. The enzyme used in the first phase of FAO is VLCAD. The enzyme is responsible for β oxidation spiral pathway's initial step, the dehydrogenation process of long-chain fatty acyl-CoA. The phenotypes include hypoglycemia, hepatomegaly, cardiomyopathy, and occasionally abrupt mortality. Most VLCAD deficiencies in newborns are now detected during the neonatal period due to the development of newborn screening programs. Mitochondrial DNA depletion syndromes (MTDPS) are one of the rarest metabolic disorders. It is an autosomal recessive disease caused by defects in genes necessary for the maintenance of mitochondrial DNA (mtDNA). One of these FBXL4 (F-box and leucine-rich repeat protein 4) variants causes encephalomyopathic mtDNA depletion syndrome 13 (MTDPS13), which presents as a failure to thrive, severe global developmental delay, hypotonia, early infantile onset of encephalopathy, and lactic acidosis. We report here the case of a Saudi infant born to consanguineous parents who presented to us with severe failure to thrive, profound neurodevelopmental delays, and facial dysmorphic features. Whole-exome sequencing (WES) showed the infants had MTDPS13. The FBXL4 variant c.1698A > G p. (Ile566Met) has previously been described as a disease that causes developmental delay and lactic acidosis, and another variant has also been detected in the patient. The ACADVL variant c.134C > A p. (Ser45*) has previously been described to cause VLCAD deficiency. A comprehensive literature review showed our patient to be the first case of MTDPS13 and VLCAD reported to date worldwide. Keywords: FBXL4, hypoglycemia, mitochondrial DNA, mitochondrial diseases, very long-chain acyl-CoA dehydrogenase deficiency, pediatric genetics

CITATION EXPORT

Maha Alotaibi, Amal Alqasmi, Faisal Albassam et al.. The First Reported Case of a Child with Two Different Rare Metabolic Disorders: Very Long-Chain Acyl-CoA Dehydrogenase Deficiency and Encephalomyopathic Mitochondrial DNA Depletion Syndrome 13. Global Medical Genetics. (2023). https://doi.org/10.1055/s-0043-1775979

AUTHORS

6 · 3 CENTRES

Maha Alotaibi, Amal Alqasmi, Faisal Albassam, Turki Alkahtani, Muath Alqahtany, Mohammed Alkhaldi

1Department of Genetic, Children Hospital, King Saud Medical City, Riyadh, Saudi Arabia
2Department of Pediatric Neurology and Epilepsy, King Saud Medical City, Riyadh, Saudi Arabia
3Collage of Medicine, AlMaarefa University, Riyadh, Saudi Arabia