Articles Posted byjamie

LCHAD Symptoms: Encephalopathy, liver dysfunction, cardiomyopathy, and myopathy. Also pigmentary retinopathy and peripheral neuropathy. Cause:...

Luft Disease Symptoms: Hypermetabolism, with fever, heat intolerance, profuse perspiration, polyphagia, polydipsia, ragged-red fibers, and...

MAD / Glutaric Aciduria Type II Long Name: Multiple Acyl-CoA Dehydrogenase Deficiency Cause: Defects of the flavoproteins responsible for...

MCAD Long Name: Medium-Chain Acyl-CoA Dehydrongenase Deficiency Symptoms: Afflicts infants or young children with episodes of encephalopathy,...

Mitochondrial Encephalopathy Includes: Encephalomyopathy, Encephalomyelopathy NIH Link:...

NARP Long Name: Neuropathy, Ataxia, and Retinitis Pigmentosa Cause: Mitochondrial DNA point mutations in genes associated with Complex V:...

What is Pearson Syndrome? Pearson syndrome is a mitochondrial DNA deletion syndrome with the onset in the first six months of life that...

Pyruvate Carboxylase Deficiency Symptoms: Lactic acidosis, hypoglycemia, severe retardation, failure to thrive Common Symptoms: Seizures and...

SCAD Long Name: Short-Chain Acyl-CoA Dehydrogenase Deficiency Symptoms: Failure to thrive, developmental delay, and hypoglycemia Cause:...

SCHAD Short Chain 3-hydroxyacyl CoA Dehydrogenase Deficiency Symptoms: Encephalopathy and possibly liver disease or cardiomyopathy Cause:...