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Summary
TREATMENT/THERAPY: VALPROIC ACID EXTERNAL
Valproic acid (VPA) is a widely used anticonvulsant drug which affects mitochondrial metabolism including the catabolism of fatty acids and branched-chain amino acids. 3-hydroxyisovaleric acid (3OH-IVA), one secondary metabolite of the leucine pathway, were significantly elevated in human urine after VPA treatment [Luis PB et al. 2012]
symptoms
hyponatremia
onset, adolescent
onset, childhood
onset, infancy
laboratory finding
3-Hydroxyisovaleric acid50.00500.00 mmol/mol Creaurine
Sodium120.00140.00 mmol/lserum
2-Methyl-3-hydroxybutyric acid mmol/mol Creaurine
Glycine300.003000.00 mmol/mol Creaurine
3-Hydroxyisovalerylcarnitine (C5-OH) +€mol/lplasma
Literature
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Hanley P,Lord K, Bauer AJThyroid Disorders in Children and Adolescents: A ReviewJAMA Pediatr170101008-10192016
Kamate M,Singh N, Patil SFamilial Hypomagnesemia with Secondary Hypocalcemia Mimicking Neurodegenerative DisorderIndian Pediatr526521-5222015
Saito Y,et al.Hyperzincemia with systemic inflammation: a heritable disorder of calprotectin metabolism with rheumatic manifestations?J Pediatr1402267-2692002
Patel S,Rayanagoudar G, Gelding SFamilial hypomagnesaemia with secondary hypocalcaemiaBMJ Case Rep002016
Sampson B,et al.A case of hyperzincemia with functional zinc depletion: a new disorder?Pediatr Res422219-2251997
Khoury K,et al.Thirty-Eight-Year Follow-Up of Two Sibling Lipoid Congenital Adrenal Hyperplasia Patients Due to Homozygous Steroidogenic Acute Regulatory (STARD1) Protein Mutation. Molecular Structure and Modeling of the STARD1 L275P MutationFront Neurosci1005272016