Inborn Errors of Metabolism with Cognitive Impairment

Sklirou, Evgenia; Lichter‐Konecki, Uta

doi:10.1016/j.pcl.2017.11.009

Cited by 9 publications

(3 citation statements)

References 15 publications

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“…Melanin, which pigmentates the hair, skin, and eyes, is also synthesized from tyrosine. Defects in genes regulating phenylalanine metabolism can cause phenylketonuria, a severe condition that could lead to intellectual disability [ 30 ]. Moreover, due to the importance of tryptophan in the biosynthesis of serotonin, researchers proposed a possible mechanism for the onset and progression of depression that inflammation may alter tryptophan metabolism and decrease the bioavailability of tryptophan, resulting in a decreased serotonin concentration [ 31 ].…”

Section: Discussionmentioning

confidence: 99%

The association between hydration state and the metabolism of phospholipids and amino acids among young adults: a metabolomic analysis

Lin,

Zhang,

Zhang

et al. 2024

Current Developments in Nutrition

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Section: Discussionmentioning

confidence: 99%

The association between hydration state and the metabolism of phospholipids and amino acids among young adults: a metabolomic analysis

Lin,

Zhang,

Zhang

et al. 2024

Current Developments in Nutrition

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“…In-born errors of metabolism and mitochondrial defects can have wide-spread effects on human physiology from birth (Vernon, 2015). These mitochondrial disorders are commonly characterized by symptoms such as vision loss, heart disease and dementia similar to that seen during aging, highlighting the crucial role of mitochondria in maintaining cellular and physiological function (Ganesh et al, 2017; Towbin and Jefferies, 2017; Sklirou and Lichter-Konecki, 2018). The onset of age-related pathologies have been linked to the development of mitochondrial dysfunction for some time, particularly in the development of Parkinson’s disease (Abou-Sleiman et al, 2006).…”

Section: Ion Channels Mitochondria and Agingmentioning

confidence: 99%

Relationships Between Ion Channels, Mitochondrial Functions and Inflammation in Human Aging

et al. 2019

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Aging is often associated with a loss of function. We believe aging to be more an adaptation to the various, and often continuous, stressors encountered during life in order to maintain overall functionality of the systems. The maladaptation of a system during aging may increase the susceptibility to diseases. There are basic cellular functions that may influence and/or are influenced by aging. Mitochondrial function is amongst these. Their presence in almost all cell types makes of these valuable targets for interventions to slow down or even reserve signs of aging. In this review, the role of mitochondria and essential physiological regulators of mitochondria and cellular functions, ion channels, will be discussed in the context of human aging. The origins of inflamm-aging, associated with poor clinical outcomes, will be linked to mitochondria and ion channel biology.

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“…These usually occur in conjunction with other neurological abnormalities. Isolated developmental delay or regression as well as isolated intellectual disability without other neurological signs is less commonly caused by a metabolic disorder (9,(14)(15)(16). IEM that commonly cause intellectual disability are phenylketonuria, homocystinuria or Smith Lemli Opitz syndrome.…”

Section: Cns Manifestationsmentioning

confidence: 99%

Common metabolic disorder (inborn errors of metabolism) concerns in primary care practice

Agana¹,

Frueh²,

Kamboj³

et al. 2018

Ann. Transl. Med

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Inborn errors of metabolism (IEMs) are rare genetic or inherited disorders resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or impaired organelle function presenting as complicated medical conditions involving several human organ systems. They involve great complexity of the underlying pathophysiology, biochemical workup, and molecular analysis, and have complicated therapeutic options for management. Age of presentation can vary from infancy to adolescence with the more severe forms appearing in early childhood accompanied by significant morbidity and mortality. The understanding of these complex disorders requires special indepth training, American Board of Medical Genetics and Genomics (ABMGG) certification and experience.Most primary care physicians (PCPs) are reluctant to deal with IEM due to unfamiliarity and rarity of such conditions compounded by prompt progression to crisis situations along with paucity of time involved in dealing with such complex disorders. While there are biochemical geneticists aka metabolic specialists' expertise available, mostly in larger academic medical centers, with expertise to deal with these rare complex issues, their initial clinical presentation in most newborns, children, adolescents or adults including asymptomatic positive newborn screen (NBS), occur in the out-patient PCP settings. Therefore, it is important that PCPs' comfort to recognize early signs and symptoms is important to initiate appropriate diagnostic and therapeutic interventions, and be able to make appropriate referrals. The following article reviews common IEM clinical presentations for a robust diagnostic differential and discuss evaluation and management approaches of patients with known or suspected IEM.

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Inborn Errors of Metabolism with Cognitive Impairment

Cited by 9 publications

References 15 publications

The association between hydration state and the metabolism of phospholipids and amino acids among young adults: a metabolomic analysis

The association between hydration state and the metabolism of phospholipids and amino acids among young adults: a metabolomic analysis

Relationships Between Ion Channels, Mitochondrial Functions and Inflammation in Human Aging

Common metabolic disorder (inborn errors of metabolism) concerns in primary care practice

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