Wednesday, September 11, 2013

Diagnosis of PDCD

The diagnosis of pyruvate dehydrogenase (PDH) deficiency may be considered in any individual with early-onset neurological disease, especially if it appears to be associated with structural abnormalities in the brain and unexplained lactic acidosis.

When it seems that lactic acid (also called lactate) and pyruvate are not significantly high in the blood , an important clue to the diagnosis may be high concentrations of lactate and/or pyruvate in the cerebrospinal fluid (the fluid that surrounds the brain and spinal cord).

Magnetic resonance spectroscopy (MRS), a radiology medical imaging technique which helps to determine level of metabolites, may be used for diagnosis.
It can help to discover lactate concentration in our central nervous system.  Serum and urine amino acids tested usually shows hyperalaninemia. When lactic acidosis is present, other disorders involving pyruvate abnormalities are part of the differential diagnosis.

However, in all of these conditions, the diagnosis is based on specific laboratory tests. Detailed tests are being implemented to determine the enzymatic activity of the PDH complex and also the different components of the complex ( cofactors such as thiamine). Most of the patients that suffers from PDCD usually are being discovered to have lack of E1 enzyme.



Source:
National Institues of Health (NIH), Office of Rare Disease Research. (2011). Pyruvate dehydrogenase deficiency. Retrieved from Genetic and Rare Diseases Information Center website: http://rarediseases.info.nih.gov/GARD/Condition/7513/QnA/29055/Pyruvate_dehydrogenase_deficiency.aspx

Saturday, September 7, 2013

Signs and symptoms



The enzymatic activity of the PDC is the determining factor of the serverity of disease and the age where the patients are confirmed suffering from PDCD. The earlier patients are suffering from PDCD the higher mortality they face. That is, patients suffering from PDCD during their prenatal period usually face death in early childhood. On the other hand, those who suffers from the disease at a later period will instead face spastic conditions and poor motor coordination but usually survive till they reach adulthood.

Categories of symptoms: neurological and metabolic.


Individuals with neurological onset of PDCD typically exhibit poor muscle tone, lethargy, seizures, and may develop severe mental retardation, blindness, microcephaly, and spastic damage to muscles and tendons.




Individuals with metabolic symptoms of PDCD usually have extremely high levels of lactic acid within the bloodstreams. Hence, causing high amounts of ammonia. This type of onset typically does not respond to medical treatment, thus, causing many patients to die in infancy.

Common signs include a complicated, difficult delivery, low birth weight, low Apgar scores, short neck, shortened limbs, bent fingers, club foot and ventricular septal defect. Unusual, dysmorphic facial features are sometimes associated with this disorder, such as an upturned nose, drooping eyelids, low-set ears, and a squinting appearance.


  • Low birth weight.
  • Abnormal appearance of the face.
  • Short neck, short hands
  • Poor muscle tone.
  • Lethargy.
  • Seizures.
  • Mental retardation.
  • Abnormal muscle movement.
  • Poor food intake.
  • Spastic condition.


Sources: 
1. Joseph Pritchard. (2011, May 04). Livestrong.com. Retrieved from http://www.livestrong.com/article/434370-a-pyruvate-dehydrogenase-deficiency/
2. A R. (2011, January 20). Simple remedies. Retrieved from http://www.simple-remedies.com/health-tips-3/pyruvate-dehydrogenase-deficiency.html

Images from:
http://www.livingwithcerebralpalsy.com/images/hypotonia.jpg
http://www.umm.edu/graphics/images/en/19076.jpg