Organic aciduria. Treatable cause of floppy infant syndrome

Autor:	B R Keeton
Rok vydání:	1976
Předmět:	congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Intellectual development Biotin Organic aciduria Ligases chemistry.chemical_compound Muscular Diseases Internal medicine Hyperventilation Valerates medicine Humans Floppy Infant Amino Acid Metabolism Inborn Errors business.industry Infant Newborn Infant Floppy infant syndrome Hypotonia Pyruvate carboxylase Butyrates Endocrinology chemistry Crotonates Muscle Tonus Pediatrics Perinatology and Child Health Female medicine.symptom business Research Article
Zdroj:	Archives of Disease in Childhood. 51:636-638
ISSN:	1468-2044 0003-9888
DOI:	10.1136/adc.51.8.636
Popis:	A floppy infant is described who has an inborn error of organic acid metabolism due to defective activity of the enzyme beta-methylcrotonyl CoA carboxylase. She presented with hyperventilation, hypotonia, and regression of motor and intellectual development. She responded to treatment with biotin.
Databáze:	OpenAIRE
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