Acute life-threatening event with rhabdomyolysis after starting on high-dose pyridoxine therapy in an infant with homocystinuria

Journal of Inherited Metabolic Disease

Volumn 21, Issue 4, 1998, Pages 439-440

  Shoji, Y ^a   Takahashi, T ^a   Sato, W ^a   Shoji, Ya ^a   Takada, G ^a  

^a AKITA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

HOMOCYSTINE; METHIONINE; PYRIDOXINE;

AMINO ACID BLOOD LEVEL; ARTICLE; ARTIFICIAL VENTILATION; CASE REPORT; CRITICAL ILLNESS; DROWSINESS; FEMALE; HOMOCYSTINURIA; HUMAN; INFANT; METABOLIC ACIDOSIS; MYOGLOBINURIA; RESPIRATORY FAILURE; RHABDOMYOLYSIS;

ACUTE DISEASE; DOSE-RESPONSE RELATIONSHIP, DRUG; FEMALE; HOMOCYSTINURIA; HUMANS; INFANT; PYRIDOXINE; RHABDOMYOLYSIS;

EID: 0031818085     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005383431095     Document Type: Article

References (4)

1. Aral B, Coudé M, London J, et al (1997) Two novel mutations (K384E and L539) in the C-terminal moiety of the cystathionine β-synthase protein in two French pyridoxine-responsive homocystinuria patients. Hum Mutat 9: 81-82.
2. Kraus JP (1994) Molecular basis of phenotype expression in homocystinuria. J Inher Metab Dis 17: 383-390.
3. Ludolph AC, Masur H, Oberweiler C, et al (1993) Sensory neuropathy and vitamin B6 treatment in homocystinuria. Eur J Pediatr 152: 271.
4. Yoshida I, Sakaguchi Y, Nakano M, et al (1985) Pyridoxal phosphate-induced liver injury in a patient with homocystinuria. J Inher Metab Dis 8: 91.