Fumarase deficiency presenting with periventricular cysts

Journal of Inherited Metabolic Disease

Volumn 28, Issue 5, 2005, Pages 799-800

  Loeffen, J ^a   Smeets, R ^a   Voit, T ^b   Hoffmann, G ^b   Smeitink, J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY HOSPITAL ESSEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

2 OXOGLUTARIC ACID; FUMARATE HYDRATASE; FUMARIC ACID; METHYLMALONIC ACID; PYRUVIC ACID;

APNEA; ARTICLE; BLOOD SAMPLING; BRAIN CYST; BRAIN VENTRICLE DILATATION; CASE REPORT; CAUSE OF DEATH; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; ECHOENCEPHALOGRAPHY; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXTRAPYRAMIDAL SYMPTOM; FAILURE TO THRIVE; FEMALE; FUMARATE HYDRATASE DEFICIENCY; GENE MUTATION; HETEROZYGOSITY; HUMAN; LABORATORY DIAGNOSIS; MICROCEPHALY; PRESCHOOL CHILD; SEIZURE; URINALYSIS;

BRAIN; CYSTS; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; ELECTROENCEPHALOGRAPHY; FATAL OUTCOME; FEMALE; FUMARATE HYDRATASE; FUMARATES; HETEROZYGOTE; HISTIDINE; HUMANS; INFANT, NEWBORN; KETOGLUTARIC ACIDS; LEUKOMALACIA, PERIVENTRICULAR; LYSINE; METABOLISM, INBORN ERRORS; METHYLMALONIC ACID; MUTATION; PHENOTYPE; PYRUVIC ACID; ULTRASONOGRAPHY;

EID: 25144471639     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-005-0044-7     Document Type: Article

References (2)

1. Coughlin EM, Christensen E, Kunz PL, et al (1998) Molecular analysis and prenatal diagnosis of human fumarase deficiency. Mol Genet Metab 63 (4): 254-262. 10.1006/mgme.1998.2684
2. Rustin P, Bourgeron T, Parfait B, Chretien D, Munnich A, Rotig A (1997) Inborn errors of the Krebs cycle: A group of unusual mitochondrial diseases in human. Biochim Biophys Acta 1361 (2): 185-197. 9300800