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Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with
R Bonilla Guerrero1, L A Wolfe, N Payne
1Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.
Insights
A 16-month-old boy with isovaleric acidaemia (IVA) was found to have co-inherited X-linked adrenoleukodystrophy (XALD). Early identification of these co-occurring metabolic disorders is crucial for timely intervention.
Area of Science:
- Biochemistry
- Genetics
- Metabolic Disorders
Background:
- Isovaleric acidaemia (IVA) is an autosomal recessive metabolic disorder caused by isovaleryl-CoA dehydrogenase deficiency.
- Newborn screening programs often detect IVA through elevated C(5)-carnitine levels.
- X-linked adrenoleukodystrophy (XALD) is a peroxisomal disorder affecting the adrenal glands and white matter.
Observation:
- A 16-month-old asymptomatic male diagnosed with IVA via newborn screening presented with elevated C(26:0) fatty acids during nutritional follow-up.
- Elevated C(26:0) levels are indicative of peroxisomal dysfunction, prompting further investigation.
- Metabolic profiling and genetic analysis confirmed the co-occurrence of XALD in the patient.
Findings:
- Enzyme-confirmed isovaleric acidaemia (IVA) and molecularly confirmed X-linked adrenoleukodystrophy (XALD) were identified in the same patient.
- The patient was asymptomatic at 16 months of age, highlighting the potential for early, pre-symptomatic diagnosis of co-inherited disorders.
- Essential fatty acid analysis revealed elevated C(26:0) levels, a marker for peroxisomal dysfunction.
Implications:
- Simultaneous diagnosis of IVA and XALD has significant implications for treatment strategies, particularly before neurological sequelae manifest.
- Genetic counseling for the family is critical due to the co-inheritance of these distinct genetic disorders.
- This case underscores the importance of comprehensive metabolic and genetic evaluations, even in asymptomatic individuals, to identify co-occurring conditions.
Abstract:
We report a 16-month-old asymptomatic male with enzyme confirmed isovaleric acidaemia (IVA; isovaleryl-CoA dehydrogenase deficiency; OMIM 243500) who, upon routine nutritional follow-up, presented evidence of peroxisomal dysfunction. The newborn screen (2 days of life) revealed elevated C(5)-carnitine (2.95 μmol/L; cutoff <0.09 μmol/L) and IVA was subsequently confirmed by metabolic profiling and in vitro enzymology. Plasma essential fatty acid (EFA) analysis, assessed to evaluate nutritional status during protein restriction and L: -carnitine supplementation, revealed elevated C(26:0) (5.0 μmol/L; normal <1.3). Subsequently, metabolic profiling and molecular genetic analysis confirmed X-linked adrenoleukodystrophy (XALD). Identification of co-inherited XALD with IVA in this currently asymptomatic patient holds significant treatment ramifications for the proband prior to the onset of neurological sequelae, and critically important counselling implications for this family.
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