Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:P01189 (beta-endorphin)
 21,003 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a case of adrenomyeloneuropathy (AMN) in which serial urodynamic studies showed neurogenic bladder dysfunction. The patient was in good health until the age of 12, when he began to lose his hair. At age 25 he started to have urinary urgency, difficulty in voiding, occasional fecal incontinence, erectile impotence, and progressive gait disturbance. In his first admission to our hospital age 31, he was intelligent but childish. He showed diffuse baldness, spastic paraparesis, and disturbed vibratory sensation. Serum cortisol response to corticotropin (ACTH) was low and serum levels of very long chain fatty acids were increased. Nerve conduction studies and sural nerve biopsy showed the presence of peripheral neuropathy. These findings confirmed the diagnosis of AMN. The first urodynamic study showed residual urine volume of 50 ml, impaired bladder sensation, and detrusor hyperreflexia. At age 38 he needed diapers because he became apathetic and demented, and could no longer stand by himself. MRI disclosed high signal intensities in the bilateral cerebral white matter. The second urodynamic study showed residual urine volume of 200 ml and decreased bladder capacity with marked detrusor hyperreflexia. Demyelinating lesions of the peripheral nerve and white matter of the spinal cord and the cerebrum may be mainly responsible for the micturitional disturbance in our patient with AMN.
 ...
PMID:Micturitional disturbance in a patient with adrenomyeloneuropathy (AMN). 959 Apr 72