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Summary
ACUTE INTERMITTEND PORPHYRIA (AIP)
PORPHYRIA, ACUTE INTERMITTEND PORPHYRIA, ACUTE INTERMITTEND
176000
OMIM = Online Medalian Inheritance of Men
79276
11q23.3
  • avoidance of specific drugs
  • carbohydrate
  • gonadotropin-releasing hormone analog
  • hematin
  • heme arginate
  • liver transplantation
  • luteinizing hormone-releasing hormone (LHRH)
  • tibolone
rare (1:10000-1:100000)
autosomal dominant
mutation in the gene encoding hydroxymethylbilane synthase
symptoms
behavior, abnormal or bizarre, confusion
constipation
diarrhea
fever
hyperaesthesia
hypertension
hypotonia
muscle weakness
nausea
obstipation
onset, adolescent
pain, abdominal
psychosis
red colored urine
respiratory insufficiency
seizures
sweating
syndrome of inappropriate antidiuretic hormone (SIADH)
tachykardia
tremor or twitching
vomiting
laboratory finding
Sodium 135.00145.00decreasedserum
Delta-aminolevulinic acid0.000.000.0019.00increasedurinenewborn
Porphobilinogen 8.80increasedurine
Porphyrins increasedurine
Porphyrins normal/increasedfecal
Magnesium decreasedserum
Literature
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Fisher Eet al.Valproate metabolites in serum and urine during antiepileptic therapy in children with infantile spasms: abnormal metabolite pattern associated with reversible hepatotoxicityEpilepsia331165-1711992
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Muller Pet al.Hyperthyroidism in early childhood and a very rare variant of glutaric aciduria: coincidence or causal relation?Klin Padiatr213313-162001
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Kimura Set al.Two cases of glutaric aciduria type I: clinical and neuropathological findingsJ Neurol Sci123038-431994
Burlina APet al.Management of movement disorders in glutaryl-CoA dehydrogenase deficiency: anticholinergic drugs and botulinum toxin as additional therapeutic optionsJ Inherit Metab Dis276911-9152004
Tylki-Szymanska Aet al.Clinical variability in mucolipidosis III (pseudo-Hurler polydystrophy)Am J Med Genet1083214-2182002
Cho CHet al.Glutaric aciduria: improved MR appearance after aggressive therapyPediatr Radiol256484-4851995
Eyaid WMet al.An inborn error of metabolism presenting as hypoxic-ischemic insultPediatr Neurol322134-1362005