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Biochemistry, Genetics and Molecular Biology · Research topic

Open research questions in Metabolism and Genetic Disorders

26 unresolved questions extracted from the limitations and future-work sections of 358 Metabolism and Genetic Disorders papers in our library. Each links back to the study that raised it.

What the literature leaves open

  • Our findings expand the limited literature by showing that, among routinely available laboratory parameters, serum uric acid is the most reliable independent predictor of AMD in pediatric MSUD patients, while plasma alanine provides complementary insight into the underlying catabolic state.

    Early laboratory indicators of acute metabolic decompensation during emergency presentations in pediatric maple syrup urine disease · 2026 · DOI

  • Current therapy with nitisinone lowers HGA levels but does not restore HGD function, motivating further investigation of HGD structure-function relationships.

    Deciphering and Improving Human Homogentisate 1,2-Dioxygenase Function Through Knowledge Gaining Directed Evolution: Implications for Alkaptonuria · 2026 · DOI

  • Early detection of late-onset forms allows presymptomatic intervention to prevent hyperammonemia; however, reliable newborn screening (NBS) markers are lacking.

    A Four-Year Prospective Pilot Study of Newborn Screening for Late-Onset Proximal Urea-Cycle Disorders in Hyogo Prefecture in Japan · 2026 · DOI

  • However, the cellular source of malonate is unclear, and current knowledge concerning its metabolism is limited to the action of a single enzyme, Acyl-CoA Synthetase Family Member 3 (ACSF3), which converts malonate to malonyl-CoA in the mitochondrial matrix.

    Cells Engage Endogenous Malonate Synthesis to Drive Mitochondrial Metabolism · 2026 · DOI

  • Obtaining of equivocal results in the case of analysis of poor quality DBS requires repeated laboratory tests, that delays the diagnostic process and postpones the start of specific treatment, which usually results in irreversible damage of the brain and internal organs of the child.

    QUALITY OF DRIED BLOOD SPOTS IS AN INTEGRAL COMPONENT OF PROMPT DETECTION OF INBORN ERRORS OF METABOLISM · 2020 · DOI

  • However, the regional mutational spectrum, genotype–phenotype correlations, and biochemical trajectories in pediatric populations from Southwest China remain incompletely defined.

    Age-associated clinical characteristics and ATP7B mutation landscape in pediatric Wilson’s disease: a study from southwest China · 2026 · DOI

  • Conclusion The coexistence of 21-hydroxylase deficiency and GS in a neonate has rarely been reported.

    Coexistence of 21-hydroxylase deficiency and Gitelman syndrome in a neonate presenting with severe hyponatremic seizures: a case report · 2026 · DOI

  • All other plasmids discussed within this manuscript are available upon request from the authors and will soon be available in a community repository, indicating current limited accessibility.

    Increased susceptibility to 4-HNE-induced toxicity and impaired development in a model of ALDH4A1-deficient pediatric epilepsy carrying the S352L variant · 2026 · DOI

  • While no standardized treatment exists, combination therapy with creatine, L-arginine, and glycine proves more effective than creatine alone, as creatine precursors can utilize alternative pathways of transport into the brain.

    Modern approaches to the diagnosis and treatment of X-linked creatine transporter deficiency: literature review and own observation · 2025 · DOI

  • This mismatch results from the allelic interaction in compound heterozygous, not yet fully understood, from the existence of variants with unpredictable evolution and from other, non-genetical factors.

    Genotype-phenotype correlation in phenylketonuria · 2021 · DOI

  • Diabetes is often accompanied by sensorineural deafness, cardiomyopathy, neuromuscular, psychiatric disorders, macular dystrophy and renal failure (kidney manifestations in adults presenting with this mutation remain poorly defined).

    Maternally inherited diabetes and deafness (MIDD) syndrome with m.3243A>G mutation associated with renal failure — a case report · 2020 · DOI

  • In literature, there has been reported cases of resistance to nondepolarizing neuromuscular blockers associated with certain pathologic conditions or medications, but such resistance has not been previously described in the context of propionic acidemia.

    Resistance to Rocuronium in a Patient with Propionic Acidemia Undergoing Appendectomy for Acute Appendicitis: A Case Report with Literature Review · 2020 · DOI

  • It is concluded that diffuse panlobular microvesicular fatty change of the liver in victims of the sudden infant death syndrome, although essentially non-specific, indicates that the state of mitochondrial enzymes should be investigated.

    Defects of metabolism of fatty acids in the sudden infant death syndrome. · 1985 · DOI

Most-cited papers in Metabolism and Genetic Disorders

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26 open questions have been extracted from the limitations and future-work passages of 358 Metabolism and Genetic Disorders papers in our library. Each one below links back to the study that raised it, so you can read the original claim in context.

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