Adenosine Kinase Deficiency: Report and Review.


:Adenosine kinase (ADK) deficiency (OMIM [online mendelian inheritance in man]: 614300) is an autosomal recessive disorder of adenosine and methionine metabolism, with a unique clinical phenotype, mainly involving the central nervous system and dysmorphic features. Patients usually present early in life with sepsis-like symptoms, respiratory difficulties, and neonatal jaundice. Subsequently, patients demonstrate hypotonia and global developmental delay. Biochemically, methionine is elevated with normal homocysteine levels and the diagnosis is confirmed through molecular analysis of the ADK gene. There is no curative treatment; however, a methionine-restricted diet has been tried with variable outcomes. Herein, we report a 4-year-old Saudi female with global developmental delay, hypotonia, and dysmorphic features. Interestingly, she has a tall stature, developmental dysplasia of the hip, optic nerve gliosis, and tigroid fundus. We found a mutation not reported previously and we compared the current case with previously reported cases. We alert clinicians to consider ADK deficiency in any neonate presenting with global developmental delay, hypotonia, dysmorphic features, and high methionine levels.






Alhusani A,Obaid A,Blom HJ,Wedell A,Alfadhel M




Has Abstract


2019-02-01 00:00:00












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    abstract::Data coming from a prospective multidisciplinary study with repeated examinations of children with fetal alcohol syndrome (FAS) are reported. These patients underwent pediatric, neurological and psychiatric assessment, EEG-recordings and psychological testing. After a period of 3-4 years various subgroups of these chi...


    pub_type: 杂志文章


    authors: Spohr HL,Steinhausen HC

    更新日期:1987-02-01 00:00:00

  • Brain magnetic resonance imaging in Wolf-Hirschhorn syndrome.

    abstract::Wolf-Hirschhorn syndrome (WHS) is a rare genetic disorder, which is caused by partial deletion of the short arm of one chromosome 4. Brain magnetic resonance (MR) imaging findings are lacking. We report on brain findings in 10 children with WHS. We evaluated the MR imaging films of 10 subjects affected by WHS, which h...


    pub_type: 杂志文章


    authors: Righini A,Ciosci R,Selicorni A,Bianchini E,Parazzini C,Zollino M,Lodi M,Triulzi F

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    authors: Molina-Carballo A,Muñoz-Hoyos A,Sánchez-Forte M,Uberos-Fernández J,Moreno-Madrid F,Acuña-Castroviejo D

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    pub_type: 杂志文章


    authors: Verrips A,van Engelen BG,ter Laak H,Wesseling P,de Jong J,Gabreëls FJ

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    authors: Goebel HH,Halbig LE,Goldfarb L,Schober R,Albani M,Neuen-Jacob E,Voit T

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  • Attention-deficit hyperactivity disorder and blood mercury level: a case-control study in Chinese children.

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    pub_type: 杂志文章,收录出版


    authors: Cheuk DK,Wong V

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  • Ataxia with oculomotor apraxia type 2: novel mutations in six patients with juvenile age of onset and elevated serum alpha-fetoprotein.

    abstract::Ataxia with oculomotor apraxia type 2 (AOA2), a neurodegenerative disorder with juvenile to adolescent onset is caused by mutations within the SENATAXIN gene ( SETX). We performed molecular analyses in six patients showing clinically an AOA2 phenotype and moderate to significant elevated serum alpha-fetoprotein levels...


    pub_type: 杂志文章


    authors: Bernard V,Stricker S,Kreuz F,Minnerop M,Gillessen-Kaesbach G,Zühlke C

    更新日期:2008-12-01 00:00:00

  • Hypocarnitinemic hypoglycemia and heart failure in an infant with a constant parenteral elementary nutrition during measles vaccination-related febrile illness.

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    pub_type: 杂志文章


    authors: Okanari K,Takahashi M,Maeda T,Sato K,Suenobu S,Izumi T

    更新日期:2007-12-01 00:00:00

  • Children's Headache: Drawings in the Diagnostic Work Up.

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    authors: Mazzotta S,Pavlidis E,Cordori C,Spagnoli C,Pini LA,Pisani F

    更新日期:2015-08-01 00:00:00

  • The cytokine and chemokine profiles in rhabdomyolysis in a patient with Gaucher disease type II.

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    pub_type: 杂志文章


    authors: Wakusawa K,Haginoya K,Ishitobi M,Hino-Fukuyo N,Togashi N,Sato I,Ohura T,Yokoyama H,Kikuchi M,Iinuma K,Tsuchiya S

    更新日期:2010-02-01 00:00:00

  • Epileptic EEG discharges during burst suppression.

    abstract::Barbiturate anaesthesia is used in the treatment of status epilepticus and severe epilepsy of children. EEG is then used as a measure of the depth of anaesthesia, burst suppression being an easily identified EEG pattern. In this case report we describe epileptiform discharges during EEG suppression in two children und...


    pub_type: 杂志文章


    authors: Jäntti V,Eriksson K,Hartikainen K,Baer GA

    更新日期:1994-10-01 00:00:00

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    pub_type: 杂志文章


    authors: Tateno A,Koya N,Aoki T,Nasu F

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  • Neurophysiological and anatomical correlations in neonatal nonketotic hyperglycinemia.

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    pub_type: 杂志文章


    authors: Scher MS,Bergman I,Ahdab-Barmada M,Fria T

    更新日期:1986-08-01 00:00:00

  • Unilateral dilation of virchow-robin spaces in early childhood.

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    authors: Brockmann K,Gröschel S,Dreha-Kulaczewski S,Reinhardt K,Gärtner J,Dechent P

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    pub_type: 杂志文章,多中心研究


    authors: Korinthenberg R

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  • CT findings in neuronal ceroid lipofuscinoses.

    abstract::Forty patients suffering from neuronal ceroid lipofuscinosis, 33 of the juvenile type (JNCL) and 7 of the infantile type (INCL), underwent a brain CT. All INCL patients showed severe atrophic changes which were most pronounced supratentorially and in the brainstem. The white matter was hypodense and markedly reduced a...


    pub_type: 杂志文章


    authors: Raininko R,Santavuori P,Heiskala H,Sainio K,Palo J

    更新日期:1990-05-01 00:00:00

  • The possible adjuvant role of bordetella pertussis and pertussis vaccine in causing severe encephalopathic illness: a presentation of three case histories.

    abstract::The clinical and some laboratory details of three children who had severe neurological sequelae after either infection with Bordetella pertussis or immunisation with diphtheria, tetanus and pertussis vaccine and oral polio vaccine are reported. Each of these patients had had a recent or concurrent viral illness. The s...


    pub_type: 杂志文章


    authors: Cavanagh NP,Brett EM,Marshall WC,Wilson J

    更新日期:1981-11-01 00:00:00

  • Identification of successful clinical fMRI sessions in children: an objective approach.

    abstract:PURPOSE:The term clinical functional magnetic resonance imaging (fMRI) describes an examination with direct clinical impact on the patient. Interpretation of clinical fMRI especially in children, however, is often difficult due to suboptimal data quality. The current gold standard is standardized visual evaluation. To ...


    pub_type: 杂志文章


    authors: Zsoter A,Staudt M,Wilke M

    更新日期:2012-10-01 00:00:00

  • The short-term effects of combined modified constraint-induced movement therapy and botulinum toxin injection for children with spastic hemiplegic cerebral palsy.

    abstract:OBJECTIVE:The aim of this study was to investigate whether modified constraint-induced movement therapy (mCIMT) following a botulinum type A toxin (BoNT-A) injection enhances the effects of the BoNT-A injection into the spastic upper limb of children with hemiplegic cerebral palsy (CP). METHODS:A combined therapy with...


    pub_type: 临床试验,杂志文章


    authors: Park ES,Rha DW,Lee JD,Yoo JK,Chang WH

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  • Evaluation of the corpus callosum in clumsy children born prematurely: a functional and morphological study.

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    pub_type: 杂志文章


    authors: Mercuri E,Jongmans M,Henderson S,Pennock J,Chung YL,de Vries L,Dubowitz L

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  • A clinical neuropathological study of the fetal alcohol syndrome.

    abstract::Five patients with the clinical diagnosis of fetal alcohol syndrome (FAS) died at the ages of 8 and 4 months and 17, 4 and 2 days. Neuropathological examination revealed microencephalic brains in all cases, without morphological evidence of maturation delay. One of them showed agenesis of the corpus callosum and hypop...


    pub_type: 杂志文章


    authors: Wisniewski K,Dambska M,Sher JH,Qazi Q

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  • Somatosensory evoked potential measures of conduction in peripheral and central pathways in children with protein-calorie malnutrition.

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    pub_type: 杂志文章


    authors: Bartel PR,Conradie JM,Robinson E,Prinsloo JG,Becker P

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  • Inherited or acquired disorders of blood coagulation in children with neurovascular complications.

    abstract::Congenital or acquired disorders of hemostasis can cause thrombotic events in adults as well as in children. Recently, acute neurologic complications such as hemiparesis or transitory ischemic attacks (TIA) have been reported in patients with different disorders of hemostasis. In addition, the interaction between anio...


    pub_type: 杂志文章,评审


    authors: Göbel U

    更新日期:1994-02-01 00:00:00

  • Reduced heart rate variability in patients affected with Rett syndrome. A possible explanation for sudden death.

    abstract::Incidence of sudden death in Rett syndrome is greater than that of the general population and cardiac electrical instability is a prime suspect cause. Our study shows that girls with Rett syndrome had significantly lower heart rate variability (marker of autonomic disarray) and longer corrected QT intervals compared w...


    pub_type: 杂志文章


    authors: Guideri F,Acampa M,Hayek G,Zappella M,Di Perri T

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  • The importance of liver biopsy in the investigation of possible mitochondrial respiratory chain disease.

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    pub_type: 杂志文章


    authors: Panetta J,Gibson K,Kirby DM,Thorburn DR,Boneh A

    更新日期:2005-08-01 00:00:00

  • Neonatal seizure monitoring using non-linear EEG analysis.

    abstract::Birth asphyxia is a major concern in neonatal care. Epileptic seizures are associated with subsequent neurodevelopmental deficits. Eighty-five percent of these seizures remain subclinical and therefore an on-line monitoring device is needed. In an earlier study we showed that the synchronization likelihood was able to...


    pub_type: 杂志文章


    authors: Smit LS,Vermeulen RJ,Fetter WP,Strijers RL,Stam CJ

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    pub_type: 杂志文章


    authors: Küpper H,Groeschel S,Alber M,Klose U,Schuhmann MU,Wilke M

    更新日期:2015-02-01 00:00:00

  • Pitfalls in the diagnosis of multiple sulfatase deficiency.

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    pub_type: 杂志文章


    authors: Mancini GM,van Diggelen OP,Huijmans JG,Stroink H,de Coo RF

    更新日期:2001-02-01 00:00:00

  • Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNATrp gene.

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    pub_type: 杂志文章


    authors: Tulinius M,Moslemi AR,Darin N,Westerberg B,Wiklund LM,Holme E,Oldfors A

    更新日期:2003-04-01 00:00:00

  • Motor performance and handedness in children with developmental language disorder.

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    pub_type: 杂志文章


    authors: Preis S,Schittler P,Lenard HG

    更新日期:1997-12-01 00:00:00