Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0023380 (lethargy)
 5,697 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Kernicterus is a preventable life-long neurologic syndrome caused by severe and untreated hyperbilirubinemia during the neonatal period. High levels of bilirubin are toxic to the developing newborn. In full-term infants, hyperbilirubinemia symptoms include severe jaundice, lethargy, and poorfeeding. Features of kernicterus may include choreoathetoid cerebral palsy, mental retardation, sensorineural hearing loss, and gaze paresis. Kernicterus is not a reportable condition in the United States, and its prevalence is unknown; however, a pilot registry at a Pennsylvania hospital documented 90 cases in 21 states from 1984 to June 2001 (L. Johnson, Pennsylvania Hospital, Philadelphia, personal communication, 2001). This report summarizes case histories of four full-term, healthy infants who developed kernicterus and underscores that to prevent kernicterus, newborns must be screened and promptly treated for hyperbilirubinemia.
 ...
PMID:Kernicterus in full-term infants--United States, 1994-1998. 1142 29

Biotinidase deficiency is the primary enzymatic defect in biotin-responsive, late-onset multiple carboxylase deficiency. Untreated children with profound biotinidase deficiency usually exhibit neurological symptoms including lethargy, hypotonia, seizures, developmental delay, sensorineural hearing loss and optic atrophy; and cutaneous symptoms including skin rash, conjunctivitis and alopecia. Although the clinical features of the disorder markedly improve or are prevented with biotin supplementation, some symptoms, once they occur, such as developmental delay, hearing loss and optic atrophy, are usually irreversible. To prevent development of symptoms, the disorder is screened for in the newborn period in essentially all states and in many countries. In order to better understand many aspects of the pathophysiology of the disorder, we have developed a transgenic biotinidase-deficient mouse. The mouse has a null mutation that results in no detectable serum biotinidase activity or cross-reacting material to antibody prepared against biotinidase. When fed a biotin-deficient diet these mice develop neurological and cutaneous symptoms, carboxylase deficiency, mild hyperammonemia, and exhibit increased urinary excretion of 3-hydroxyisovaleric acid and biotin and biotin metabolites. The clinical features are reversed with biotin supplementation. This biotinidase-deficient animal can be used to study systematically many aspects of the disorder and the role of biotinidase, biotin and biocytin in normal and in enzyme-deficient states.
 ...
PMID:Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder. 2105 Dec 54

A previously healthy 21-year-old man presented with an 8-month history of weight loss, lethargy and dysuria unresponsive to empiric antibiotics and paraurethral drainage of a prostatic abscess. Urinalysis showed pyuria, but cultures failed to grow any organisms. Additionally, he developed new onset sensorineural hearing loss. CT of the chest showed two right-sided cavitary lesions. CT of the abdomen and pelvis demonstrated a prostatic abscess. A prostate biopsy demonstrated necrotising granulomatous prostatitis. A lung biopsy showed necrotising granulomatous inflammation. He was diagnosed with granulomatosis with polyangiitis (GPA). He was successfully treated with rituximab and prednisone. At 6-month follow-up, he continued to be in remission with resolution of his symptoms. This case demonstrates a rare presentation of prostatitis as the presenting symptom of GPA. As far as we know, this case is the first documented report of rituximab and prednisone as successful therapy for prostatitis secondary to GPA.
 ...
PMID:Prostatitis, a rare presentation of granulomatosis with polyangiitis, successfully treated with rituximab and prednisone. 3010 18