Corticosterone methyl oxidase type II (CMO II) deficiency: Biochemical approach to diagnosis

Yong, A. B. W.; Montalto, Joseph; Pitt, James; Oakes, S; Preston, T.R.; Buchanan, Charles

doi:10.1016/0009-9120(94)00048-z

Cited by 12 publications

(3 citation statements)

References 8 publications

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“…6). Corticosterone metabolite excretion is normal or increased, whereas cortisol metabolites are normal (118, 121, 122). The urinary ratio of THAldo/18OHTHA or plasma aldosterone/18OHB discriminate CMO I and CMO II conditions (119, 125, 126).…”

Section: Steroid Metabolome Signatures Of Inborn Errors Of Steroid Bimentioning

confidence: 99%

Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism

et al. 2019

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Steroid biosynthesis and metabolism are reflected by the serum steroid metabolome and, in even more detail, by the 24-hour urine steroid metabolome, which can provide unique insights into alterations of steroid flow and output indicative of underlying conditions. Mass spectrometry–based steroid metabolome profiling has allowed for the identification of unique multisteroid signatures associated with disorders of steroid biosynthesis and metabolism that can be used for personalized approaches to diagnosis, differential diagnosis, and prognostic prediction. Additionally, steroid metabolome analysis has been used successfully as a discovery tool, for the identification of novel steroidogenic disorders and pathways as well as revealing insights into the pathophysiology of adrenal disease. Increased availability and technological advances in mass spectrometry–based methodologies have refocused attention on steroid metabolome profiling and facilitated the development of high-throughput steroid profiling methods soon to reach clinical practice. Furthermore, steroid metabolomics, the combination of mass spectrometry–based steroid analysis with machine learning–based approaches, has facilitated the development of powerful customized diagnostic approaches. In this review, we provide a comprehensive up-to-date overview of the utility of steroid metabolome analysis for the diagnosis and management of inborn disorders of steroidogenesis and autonomous adrenal steroid excess in the context of adrenal tumors.

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Section: Steroid Metabolome Signatures Of Inborn Errors Of Steroid Bimentioning

confidence: 99%

Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism

et al. 2019

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“…The major symptoms are failure to thrive, recurrent vomiting, and severe dehydration; a history of fever, diarrhea, lethargy, poor weight gain, and poor feeding since birth may also be observed (1)(2)(3). The key biochemical indicators are hyponatremia, hyperkalemia, natriuresis, metabolic acidosis, elevated plasma renin activity (PRA), and decreased plasma aldosterone.…”

mentioning

confidence: 97%

“…Aldosterone deficiency caused by other defects in adrenal steroid biosynthesis, including congenital adrenal hyperplasia due to 21-hydroxylase or 3␤-hydroxysteroid dehydrogenase deficiency, congenital adrenal hypoplasia due to a deficiency of the steroidogenic acute regulatory (StAR) protein and primary adrenocortical insufficiency can be excluded on the basis of steroid levels, both basal and in response to ACTH stimulation. Pseudohypoaldosteronism should also be considered, as its presentation may be similar to that of aldosterone deficiency but is characterized by elevated serum aldosterone levels (2).…”

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confidence: 99%

A Compound Heterozygote Case of Type II Aldosterone Synthase Deficiency

Dunlop¹,

Crock

Montalto

et al. 2003

The Journal of Clinical Endocrinology &Amp; Metabolism

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An infant with failure to thrive, persistent hyponatremia and episodic vomiting and diarrhea was admitted to hospital at 9 months of age, and the diagnosis of type II aldosterone synthase deficiency was confirmed by plasma and urinary steroid determinations. The entire coding sequence of the aldosterone synthase gene (CYP11B2) was determined (both strands) in the affected infant, an unaffected sibling, and both parents. An exon 3 mutation (C554T, leading to amino acid T185I) was found in the father and both siblings, and an exon 9 mutation (A1492G, leading to T498A) was found in the affected infant and the mother. Expression of the mutant sequences in COS cells showed steroidogenic patterns typical of aldosterone synthase type II deficiency, including very low levels of aldosterone synthesis (< or =0.5% of wild-type enzyme) consistent with the low aldosterone levels in the patient's plasma. Both mutations in this compound heterozygote localize to the beta 3-sheet in the cytochrome P450 enzyme structure, as does the previously characterized R181W mutation. This region of the enzyme is not part of the putative structural core, but mutations to this region suggest that it is important for conferring the unique ability of aldosterone synthase to catalyze efficient oxygenation of the C(18) carbon of steroid substrates.

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Mineralocorticoid Deficiency Syndromes

Litchfield¹,

Dluhy²

1999

Hormone Replacement Therapy

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Corticosterone methyl oxidase type II (CMO II) deficiency: Biochemical approach to diagnosis

Cited by 12 publications

References 8 publications

Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism

Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism

A Compound Heterozygote Case of Type II Aldosterone Synthase Deficiency

Mineralocorticoid Deficiency Syndromes

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