First Case Report of Primary Carnitine Deficiency Manifested as Intellectual Disability and Autism Spectrum Disorder

José Guevara-Campos1, Lucía González-Guevara2, José Guevara-González3

  • 1"Felipe Guevara Rojas" Hospital, Pediatrics Service, University of Oriente, El Tigre-Anzoátegui 6034, Venezuela. joguevara90@hotmail.com.

Brain Sciences
|June 16, 2019
PubMed
Summary

Systemic primary carnitine deficiency (PCD) can present with autism spectrum disorder and intellectual disability, mimicking other metabolic disorders. Early diagnosis and carnitine supplementation are crucial for improved outcomes in this rare genetic condition.

Related Concept Videos

Autism Spectrum Disorder01:19

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
1.0K
Intellectual Disability01:29

Intellectual Disability

Intellectual disability (ID) is a neurodevelopmental condition characterized by deficits in intellectual and adaptive functioning that manifest during the developmental period. This condition encompasses challenges in reasoning, memory, problem-solving, and learning, accompanied by impairments in everyday life skills, such as communication, self-care, and social interactions. Intellectual disability affects approximately 1% of the population in the United States, impacting an estimated 5...
684
The Electromagnetic Spectrum02:37

The Electromagnetic Spectrum

The electromagnetic spectrum consists of all the types of electromagnetic radiation arranged according to their frequency and wavelength. Each of the various colors of visible light has specific frequencies and wavelengths associated with them, and you can see that visible light makes up only a small portion of the electromagnetic spectrum. Because the technologies developed to work in various parts of the electromagnetic spectrum are different, for reasons of convenience and historical...
64.9K
The Electromagnetic Spectrum01:24

The Electromagnetic Spectrum

Electromagnetic waves are categorized according to their wavelengths and frequencies, giving the electromagnetic spectrum. These waves are classified as radio, infrared, ultraviolet, etc. Radio waves refer to electromagnetic radiation with wavelengths ranging from millimeters to kilometers. Radio waves are commonly used for audio communications (i.e., radios) and typically result from an alternating current in the wires of a broadcast antenna. They cover a broad wavelength range and are used...
33.4K
Learning Disabilities01:25

Learning Disabilities

Learning disabilities are cognitive disorders caused by neurological impairments that affect cognitive functions like language and reading, without indicating overall intellectual or developmental challenges. These disabilities differ from global intellectual or developmental disabilities as they are limited to distinct cognitive functions. Common learning disabilities include dysgraphia, dyslexia, and dyscalculia, each of which impacts unique aspects of learning.
Dyslexia
Dyslexia is a...
581
IR Spectrum01:19

IR Spectrum

When infrared (IR) radiation passes through a molecule, the bonds stretch or bend by absorbing the radiation. This absorption creates the molecule's absorption spectrum, which is the plot of its percentage transmittance versus wavenumber.
Transmittance is defined as the ratio of the radiant power passing through a sample to that from the radiation's source. Multiplying the transmittance by 100 gives the percent transmittance (%T), which varies between 100% (no absorption) and 0%...
2.0K