Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation

Journal of Inherited Metabolic Disease

Volumn 28, Issue 6, 2005, Pages 1136-1138

  Oude Luttikhuis, H G M ^a,d   Touati, G ^a   Rabier, D ^a   Williams, M ^b   Jakobs, C ^c   Saudubray, J M ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^d NONE   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ALANINE AMINOTRANSFERASE; AMMONIA; ASPARTATE AMINOTRANSFERASE; BICARBONATE; CARNITINE; CREATININE; GLUTAMINE; GLYCINE; HYDRACRYLIC ACID; LACTIC ACID; LEUCINE; METHYLCROTONOYL COENZYME A CARBOXYLASE;

ACIDOSIS; AMINO ACID BLOOD LEVEL; ARTICLE; BABINSKI REFLEX; CASE REPORT; CLINICAL FEATURE; COMA; CONVULSION; DISEASE SEVERITY; ELECTROENCEPHALOGRAM; ENZYME DEFICIENCY; EXTRAPYRAMIDAL SYMPTOM; FATALITY; GLASGOW COMA SCALE; HEMIPARESIS; HEPATOMEGALY; HOSPITAL ADMISSION; HUMAN; HYPOGLYCEMIA; INTUBATION; MALE; MUSCLE WEAKNESS; PRESCHOOL CHILD; PROTEIN DIET; PSYCHOMOTOR DEVELOPMENT; URINALYSIS;

CARBON-CARBON LIGASES; GLUCOSE METABOLISM DISORDERS; HUMANS; HYPOGLYCEMIA; INFANT; MALE; METABOLISM, INBORN ERRORS; SEIZURES;

EID: 31644451874     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-005-4545-1     Document Type: Article

References (4)

1. Bartlett K, Bennett MJ, Hill RP, Lashford LS, Pollitt RJ, Worth HG (1984) Isolated biotin-resistant 3-methylcrotonyl CoA carboxylase deficiency presenting with life-threatening hypoglycaemia. J Inherit Metab Dis 7: 182.
2. Baumgartner MR (2005) Molecular mechanism of dominant expression of 3-methylcrotonyl-CoA carboxylase deficiency. J Inherit Metab Dis 28: 301-309.
3. Koeberl DD, Millington DS, Smith WE, et al (2003) Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening. J Inherit Metab Dis 26 (1): 25-35.
4. Ogier de Baulny H, Wendel U, Saudubray JM (2000) Branched-chain organic acidurias. In: Fernandes J, Saudubray JM, Van den Berghe, eds. Inborn Metabolic Diseases - Diagnosis and Treatment. Berlin: Springer, 195-212.