Articles Posted byjamie

Complex II Deficiency Long Name: Succinate dehydrogenase deficiency Symptoms: Encephalomyopathy and various manifestations, including failure...

Complex V Deficiency Long Name: ATP synthase deficiency Symptoms: Slow, progressive myopathy Links:...

CPT I Deficiency Symptoms: Enlarged liver and recurrent Reye-like episodes triggered by fasting or illnesses Cause: Autosomal recessive...

CPT II Deficiency Symptoms – Myopathic: Exercise intolerance, fasting intolerance, muscle pain, muscle stiffness, and myoglobin in the urine...

Lactic Acidosis Cause: The accumulation of lactic acid due to its production exceeding its use. Chronic lactic acidosis is a common symptom of...

LCAD Long Name: Long-Chain Acyl-CoA Dehydrongenase Deficiency Symptoms: Usually causes a fatal syndrome, in infants, typified by failure to...

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,...