Short‐term response to dietary therapy in molybdenum cofactor deficiency
Boles R, Ment L, Meyn M, Horwich A, Kratz L, Rinaldo P. Short‐term response to dietary therapy in molybdenum cofactor deficiency. Annals Of Neurology 1993, 34: 742-744. PMID: 7694543, DOI: 10.1002/ana.410340520.Peer-Reviewed Original ResearchConceptsMolybdenum cofactor deficiencyCofactor deficiencyShort-term clinical improvementDietary methionine restrictionUrinary sulphiteClinical relapseClinical improvementLaboratory featuresDietary therapySevere irritabilityLactic acidosisHead growthMethionine restrictionDevelopmental delayCysteine supplementationCommercial dipstickTherapyIrritabilityDeficiencyDevelopmental progressRelapseHypouricemiaAcidosisInfantsMicrocephaly