Hyperphenylalaninaemias

Smith, I.; Brenton, D. P.

doi:10.1007/978-3-662-03147-6_12

Cited by 10 publications

(2 citation statements)

References 16 publications

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“…WS is common in untreated phenylketonuria [4]. The association with biopterin metabolism deficiency is less frequently reported, but there is no systematic or epidemiological study.…”

Section: Discussionmentioning

confidence: 99%

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Clinical and EEG video‐polygraphic features of epileptic spasms in a child with dihydropteridine reductase deficiency. Efficiency of hydrocortisone

Mikaeloff,

Plouin,

Dhondt

et al. 2000

Epileptic Disorders

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West syndrome is an epileptic encephalopathy which includes psychomotor deterioration. In rare cases, it is due to an inherited, progressive metabolic disease. We report a 2 year‐old child with dihydropteridine reductase deficiency who developed hypsarrhythmia and infantile spasms which were documented on video‐polygraphic EEG. Despite dietary restriction of phenylalanine, and oral administration of amine precursors, the initial course was unfavorable. A beneficial effect from hydrocortisone was then observed, with control of spasms and improvement of psychomotor delay.

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“…WS is common in untreated phenylketonuria [4]. The association with biopterin metabolism deficiency is less frequently reported, but there is no systematic or epidemiological study.…”

Section: Discussionmentioning

confidence: 99%

“…Patients less severely affected experience symptom stabilization or even slow developmental progress. Epileptic disorders are not systematically reported but clinical descriptions refer to myoclonus, ES and generalized seizures [4]. Epilepsy is more frequently reported in DHPR deficiency than in other biopterin deficiencies.…”

Section: Figurementioning

confidence: 99%

Clinical and EEG video‐polygraphic features of epileptic spasms in a child with dihydropteridine reductase deficiency. Efficiency of hydrocortisone

Mikaeloff,

Plouin,

Dhondt

et al. 2000

Epileptic Disorders

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Alterazioni metaboliche congenite

Uziel

Bugiani

2009

Terapia Delle Malattie Neurologiche

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PKU: niet altijd ‘PKU'

Croonen

Jonckheere

Morava

2011

KIND

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Neonatal screening aims to detect serious but treatable diseases in neonates. A positive screening for phenylketonuria (PKU) does not necessarily mean hyperphenylalaninemia as a consequence of classic PKU. We report on a female patient diagnosed with dihydropteridin reductase (DHPR) deficiency through neonatal screening. This is a rare inborn error of the biopterin metabolism, characterized by a more severe neurological involvement compared to classic PKU. A diagnostic oral tetrahydrobiopterin (BH4) loading test was performed in our patient followed by detailed metabolic investigations of the pterin metabolism to confirm the correct diagnosis of DHPR deficiency. Despite adequate treatment by suppletion of BH4, folinic acid, Ldopa/carbidopa (Sinemet®) and L-5-hydroxytryptophan (Oxitriptan®) the patient deceased suddenly at the age of 10 months. InleidingIn Nederland is in 1974 gestart met neonatale screening. Neonatale screening beoogt ernstige aandoeningen bij de pasgeborene op te sporen waarbij onherstelbare gezondheidsschade te voorkomen is. De screening dient tussen 72 uur en 168 uur post partum te worden verricht. 1 Een van de aandoeningen waarop wordt getest, is fenylketonurie (PKU). PKU ontstaat door fenylalaninehydroxylase (PAH)-deficie¨ntie. 2 PAH katalyseert de omzetting van het essentie¨le aminozuur fenylalanine naar tyrosine waarbij tetrahydrobiopterine (BH4) als cofactor vereist is. Deficie¨ntie van PAH leidt tot hyperfenylalaninemie. Bij een fenylalaninewaarde ≥ 480 mmol/l wordt de patie¨nt verwezen naar een universitair medisch centrum (UMC). Bij een waarde ≥ 240 en < 480 mmol/l wordt de hielprik herhaald. Als de waarde opnieuw ≥ 240 mmol/l bedraagt, is eveneens verwijzing naar een UMC geı¨ndiceerd. Het doel is zo snel mogelijk behandeling starten om neurologische schade te beperken en mogelijk te voorkomen.Een positieve screening voor PKU betekent niet per definitie dat het gaat om hyperfenylalaninemie ten gevolge van PAH-deficie¨ntie. Het kan meer betekenen dan 'PKU'. Hyperfenylalaninemie kent verworven (lever-en/of nierfalen, tyrosinemie, galactosemie, overmatig eiwitaanbod, medicatie, transie¨nt neonataal, inflammatoire reacties) en erfelijke oorzaken. 2 Erfelijke oorzaken zijn enerzijds in te delen in hyperfenylalaninemie ten gevolge van PAH-deficie¨ntie, bestaande uit 'klassieke PKU' en BH4-responsieve PKU (BH4RPKU). Anderzijds kan hyperfenylalaninemie het gevolg zijn van defecten in het BH4-metabolisme, ook wel (bio)pterinemetabolisme genoemd ('maligne PKU') (tabel 1).

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Hyperphenylalaninaemias

Cited by 10 publications

References 16 publications

Clinical and EEG video‐polygraphic features of epileptic spasms in a child with dihydropteridine reductase deficiency. Efficiency of hydrocortisone

Clinical and EEG video‐polygraphic features of epileptic spasms in a child with dihydropteridine reductase deficiency. Efficiency of hydrocortisone

Alterazioni metaboliche congenite

PKU: niet altijd ‘PKU'

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