Cutaneous and neurologic manifestations of biotinidase deficiency

International Journal of Dermatology

Volumn 39, Issue 5, 2000, Pages 363-365

  Navarro, Paloma Cornejo ^a,b   Guerra, Aurora ^a   Alvarez, J Gregorio ^a   Ortiz, F Javier ^a  

^a HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^b NONE   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

BIOTIN; BIOTINIDASE;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; DUODENUM DISEASE; ENZYME DEFICIENCY; ERYTHEMATOSQUAMOUS SKIN DISEASE; HUMAN; HYPERAMMONEMIA; MALE; MECKEL DIVERTICULUM; METABOLIC ACIDOSIS; NEWBORN; STRIDOR; TACHYPNEA;

EID: 0034077876     PISSN: 00119059     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-4362.2000.00841.x     Document Type: Article

References (8)

1. Mock DM. Skin manifestations of biotin deficiency. Semin Dermatol 1991; 10: 296-302.
2. Mock DM, Baswell DL, Baker H, et al. Biotin deficiency complicating parenteral alimentation: diagnosis, metabolic repercussions and treatment. J Pediatr 1985; 106: 762-769.
3. Wolf B, Heard GS. Biotinidase deficiency. Adv Pediatr 1991; 38: 1-21.
4. Wolf B, Grier RE, Allen RJ, et al. Phenotypic variation in biotinidase deficiency. J Pediatr 1983; 103: 233-237.
5. Secor JR, Levy HL, Lawler M, et al. Partial biotinidase deficiency: clinical and biochemical features. J Pediatr 1990; 116: 78-83.
6. Wolf B, Heard GS, Weissbecker KA, et al. Biotinidase deficiency. Initial clinical features and rapid diagnosis. Ann Neurol 1985; 18: 614-617.
7. Williams ML, Packman S, Cowman MJ. Alopecia and periorificial dermatitis in biotin-responsive multiple carboxylase deficiency. J Am Acad Dermatol 1983; 9: 97-103.
8. Wolf B, Grier E, Secor JR, et al. Biotinidase deficiency: a novel vitamin recycling defect. J Inher Metab Dis 1985; 8 (Suppl. 1): 53-58.