Articles Posted byjamie

Complex II Deficiency

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

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Complex V Deficiency

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

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CPT I Deficiency

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

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CPT II Deficiency

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

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Lactic Acidosis

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

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LCA Deficiency

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

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LCHA Deficiency

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

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Luft Disease

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

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MCAD

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

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