Premium
Variable clinical presentation in three patients with 3‐methylglutaconyl‐coenzyme A hydratase deficiency
Author(s) -
Gibson K. M.,
Wappner R. S.,
Jooste S.,
Erasmus E.,
Mienie L. J.,
Gerlo E.,
Desprechins B.,
De Meirleir L.
Publication year - 1998
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005476315892
Subject(s) - spastic quadriplegia , hypertonia , medicine , dystonia , failure to thrive , pediatrics , hypotonia , psychomotor retardation , microcephaly , gastroenterology , cerebral palsy , pathology , anesthesia , physical therapy , alternative medicine , psychiatry
3‐Methylglutaconyl‐coenzyme A (3‐MG‐CoA) hydratase deficiency (type I 3‐methylglutaconic aciduria), a rare defect of L‐leucine catabolism, has previously been identified in 5 patients (four families). Clinical findings in 3 were mild, with delayed speech development in 2 siblings, and bronchiolitis, mild hyperchloraemic acidosis, and gastro‐oesophageal reflux in a third patient (Narisawa et al 1986; Gibson et al 1992). In two recently described patients, a more severe presentation was observed. The presentation included vomiting, seizures, coma, speech retardation, hepatomegaly, and decerebrate posture in one patient in whom the provisional diagnosis was Reye syndrome (Hou and Wang 1995). In another patient, the clinical picture encompassed psychomotor retardation, failure to thrive, spastic quadriplegia, dystonic involuntary movements in the upper limbs, and bilateral atrophic changes of the basal ganglia (Shoji et al 1996). We present 3 patients with 3‐MG‐CoA hydratase deficiency who also manifested widely differing clinical presentations, bringing to eight the total number of patients with documented 3‐MG‐CoA hydratase deficiency.