Dihydrobiopterin synthesis defect

Tanaka, Koshi; Yoneda, Masayasu; Nakajima, Tatsuo; Miyatake, Takashi; Owada, Masahiko

doi:10.1212/wnl.37.3.519

Cited by 18 publications

(5 citation statements)

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“…Dystonia of the lower limbs may mimic spastic paraparesis. In addition, mild forms of tyrosine hydroxylase deficiency (Schiller et al 2004), sepiapterin reductase deficiency (Friedman et al 2006), PTP synthase deficiency (Fiori et al 2004;Tanaka et al 1987) or dihydropteridine reductase (DHPR) deficiency (Pogson 1997) have also been reported in adults. Patients may exhibit, in addition to L-doparesponsive dystonia, mental retardation, hypersomnolence, hyperphagia and pyramidal signs.…”

Section: Patient With Movement Disordersmentioning

confidence: 99%

Movement disorders and inborn errors of metabolism in adults: A diagnostic approach

Sedel

Saudubray

Roze

et al. 2008

J of Inher Metab Disea

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Inborn errors of metabolism (IEMs) may present in adolescence or adulthood with various movement disorders including parkinsonism, dystonia, chorea, tics or myoclonus. Main diseases causing movement disorders are metal-storage diseases, neurotransmitter synthesis defects, energy metabolism disorders and lysosomal storage diseases. IEMs should not be missed as many are treatable. Here we briefly review IEMs causing movement disorders in adolescence and adults and propose a simple diagnostic approach to guide metabolic investigations based on the clinical course of symptoms, the type of abnormal movements, and brain MRI abnormalities.

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Section: Patient With Movement Disordersmentioning

confidence: 99%

Movement disorders and inborn errors of metabolism in adults: A diagnostic approach

Sedel

Saudubray

Roze

et al. 2008

J of Inher Metab Disea

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“…The HVA and 5HIAA levels were either normal or reduced. 93 Tanaka et al 386 found large amounts of neopterin with only a trace of biopterin in a 27 year old man with deficient dihydrobiopterin synthesis who showed dystonia along with mild mental retardation, rigid spasticity, hyperreflexia and myoclonus. CSF levels of HVA and 5HIAA were low.…”

Section: Csf Studiesmentioning

confidence: 99%

The Dystonias

McGeer

1988

Can. j. neurol. sci.

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Dystonia is a difficult problem for both the clinician and the scientist. It is sufficiently common to be seen by almost all physicians, yet uncommon enough to prevent any physician from gaining broad experience in its diagnosis and treatment. Each case represents a difficult challenge even to the specialist. The basic scientist is faced with investigating a disorder that is without relevant animal models and which is so rare that obtaining suitable tissue for study is a major obstacle. Dystonia may be idiopathic, or associated with lesions from many sources, including a variety of rare diseases. If idiopathic, it may be genetically transmitted or sporadic. If genetically transmitted, it may be generalized or focal, with symptoms varying in different members of the same family. It may be refractory to treatment, or it may respond to any one of a number of individual drugs that have very different mechanisms of action. For idiopathic dystonias, no clear method of genetic transmission has been established and no consistent pathology identified.

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“…Phenylalanine is known to increase susceptibility to seizures as well as to other neurologic symptoms (such as myoclonus) in patients with disorders causing hyperphenylalaninemia [23][24][25][26][27]. We speculate that TMP-SMX might have impaired phenylalanine metabolism in our patient and thereby worsened the posthypoxic action myoclonus.…”

Section: Discussionmentioning

confidence: 89%

Trimethoprim-Sulfamethoxazole Exacerbates Posthypoxic Action Myoclonus in a Patient with Suspicion of Pneumocystis jiroveci Infection

et al. 2004

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We describe a 58-year-old patient with relapsing high-grade non-Hodgkin's lymphoma who exhibited exacerbation of posthypoxic action myoclonus during high-dose intravenous trimethoprim-sulfamethoxazole (TMP-SMX) treatment for highly suspicious Pneumocystis jiroveci pneumonia (PCP). Three months previously the patient had experienced a hypoxic insult caused by respiratory arrest due to an anaphylactic reaction to antibiotic therapy. He had developed posthypoxic action myoclonus (Lance-Adams syndrome), which was well controlled by oral treatment with piracetam. However, after TMP-SMX therapy (115 mg/kg daily) was started for suspicion of newly developed PCP, posthypoxic action myoclonus worsened dramatically resulting in complete disability. Anti-myoclonic therapy with increased doses of piracetam and valproic acid did not significantly improve his clinical condition. Only when TMPSMX doses were reduced (38 mg/kg daily) on day 12 did action myoclonus cease within 2 to 3 days. We suggest that TMP-SMX can exacerbate posthypoxic action myoclonus.

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Dihydrobiopterin synthesis defect

Cited by 18 publications

References 0 publications

Movement disorders and inborn errors of metabolism in adults: A diagnostic approach

Movement disorders and inborn errors of metabolism in adults: A diagnostic approach

The Dystonias

Trimethoprim-Sulfamethoxazole Exacerbates Posthypoxic Action Myoclonus in a Patient with Suspicion of Pneumocystis jiroveci Infection

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