Diagnosis
According to Pritts and Susman "The medical history is the most powerful tool for diagnosing eating disorders". There are many medical disorders that mimic eating disorders and comorbid psychiatric disorders. Early detection and intervention can assure a better recovery and can improve a lot the quality of life of these patients. In the past 30 years eating disorders have become increasingly conspicuous and it is uncertain whether the changes in presentation reflect a true increase. Anorexia nervosa and bulimia nervosa are the most clearly defined subgroups of a wider range of eating disorders. Many patients present with subthreshold expressions of the two main diagnoses: others with different patterns and symptoms.As eating disorders, especially anorexia nervosa, are thought of as being associated with young, white females, diagnosis of eating disorders in other races happens more rarely. In one study, when clinicians were presented with identical case studies demonstrating disordered eating symptoms in Black, Hispanic, and white women, 44% noted the white womans behavior as problematic; 41% identified the Hispanic womans behavior as problematic, and only 17% of the clinicians noted the Black womans behavior as problematic (Gordon, Brattole, Wingate, & Joiner, 2006). Medical
The diagnostic workup typically includes complete medical and psychosocial history and follows a rational and formulaic approach to the diagnosis. Neuroimaging using fMRI, MRI, PET and SPECT scans have been used to detect cases in which a lesion, tumor or other organic condition has been either the sole causative or contributory factor in an eating disorder.
Muscle weakness can be found with either presentation.In countries with expanded newborn screening, SPCD can be identified shortly after birth. Affected infants show low levels of free carnitine and all other acylcarnitine species by tandem mass spectrometry. Not all infants with low free carnitine are affected with SPCD. Some may have carnitine deficiency secondary to another metabolic condition or due to maternal carnitine deficiency. Proper follow-up of newborn screening results for low free carnitine includes studies of the mother to determine whether her carnitine deficiency is due to SPCD or secondary to a metabolic disease or diet. Maternal cases of SPCD have been identified at a higher than expected rate, often in women who are asymptomatic. Some mothers have also been identified through newborn screening with cardiomyopathy that had not been previously diagnosed. The identification and treatment of these asymptomatic individuals is still developing, as it is not clear whether they require the same levels of intervention as patients identified with SPCD early in life based on clinical presentation. Genetics
SPCD is an autosomal recessive condition, meaning a mutated allele must be inherited from each parent for an individual to be affected. The gene responsible for the OCTN2 carnitine transporter is SLC22A5, located at 5q31.1-32. SLC22A5 is regulated by peroxisome proliferator-activated receptor alpha.