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1.
JIMD Rep ; 41: 81-89, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29671225

RESUMO

The early progressive form of the X-linked disorder, Hunter syndrome or mucopolysaccharidosis type II (MPS II) (OMIM #309900), is characterized by cognitive decline, and pulmonary and cardiac complications that often cause death before 20 years of age. Deficiency of the lysosomal enzyme, iduronate-2-sulfatase (EC 3.1.6.13) results in deposition of the glycosaminoglycans, dermatan, and heparan sulfate in various tissues. In recent years, enzyme replacement therapy (ERT) has become the mainstay of treatment, but is expensive and ineffective in arresting cognitive decline. Hematopoietic stem cell transplantation (HSCT) also provides enzyme replacement, and may be effective in stabilizing neurocognitive function if initiated early, though data are limited. We present a case series of four patients who demonstrated neurocognitive stabilization with early HSCT. HSCT is a potentially underutilized treatment strategy for select groups of MPS II patients.

2.
Pediatr Transplant ; 22(1)2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29044911

RESUMO

We report the outcomes of an adult and pediatric split liver transplant from an adult male donor who died due to an unrecognized UCD, OTC deficiency. Recognizing inborn errors of metabolism can be challenging, especially in adult centers where such disorders are rarely encountered. Shortage of donors for liver transplantation has led to procedures to maximize donor utilization, such as split and live donor grafts. The cause of death should be ascertained before accepting a cadaveric donor organ.


Assuntos
Transplante de Fígado , Doença da Deficiência de Ornitina Carbomoiltransferase/diagnóstico , Complicações Pós-Operatórias/diagnóstico , Adulto , Criança , Evolução Fatal , Feminino , Humanos , Transplante de Fígado/métodos , Masculino , Doença da Deficiência de Ornitina Carbomoiltransferase/etiologia
3.
Clin Genet ; 91(4): 557-563, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27247049

RESUMO

Individuals with two or more copies of the MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype known as MECP2 Duplication syndrome. We have examined perinatal characteristics, early childhood development and medical co-morbidities in this disorder. The International Rett Syndrome Phenotype Database (InterRett), which collects information from caregivers and clinicians on individuals with Rett syndrome and MECP2 associated disorders, was used as the data source. Data were available on 56 cases (49 males and 7 females) with MECP2 Duplication syndrome. Median age at ascertainment was 7.9 years (range: 1.2-37.6 years) and at diagnosis 3.0 years (range: 3 weeks-37 years). Less than a third (29%) learned to walk. Speech deterioration was reported in 34% and only 20% used word approximations or better at ascertainment. Over half (55%) had been hospitalised for respiratory infections in the first 2 years of life. Just under half (44%) had seizures, occurring daily in nearly half of this group. The majority (89%) had gastrointestinal problems and a third had a gastrostomy. Following the recent demonstration of phenotype reversal in a mouse model of MECP2 Duplication, a clear understanding of the natural history is crucial to the design and implementation of future therapeutic strategies.


Assuntos
Deficiência Intelectual/genética , Deficiência Intelectual Ligada ao Cromossomo X/genética , Deficiência Intelectual Ligada ao Cromossomo X/fisiopatologia , Proteína 2 de Ligação a Metil-CpG/genética , Adolescente , Adulto , Animais , Criança , Pré-Escolar , Bases de Dados Genéticas , Feminino , Trato Gastrointestinal/fisiopatologia , Trato Gastrointestinal/cirurgia , Humanos , Lactente , Deficiência Intelectual/fisiopatologia , Estimativa de Kaplan-Meier , Transtornos do Desenvolvimento da Linguagem/genética , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Masculino , Deficiência Intelectual Ligada ao Cromossomo X/epidemiologia , Deficiência Intelectual Ligada ao Cromossomo X/terapia , Camundongos , Fenótipo , Síndrome de Rett/epidemiologia , Síndrome de Rett/genética , Síndrome de Rett/fisiopatologia , Adulto Jovem
4.
JIMD Rep ; 2: 103-6, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23430861

RESUMO

Mucopolysaccharidosis type VI, Maroteaux-Lamy syndrome is a lysosomal storage disorder with progressive, multisystem involvement caused by deficiency of the lysosomal enzyme N-acetylgalactosamine-4-sulfatase leading to accumulation of the glycosaminoglycan, keratan sulfate. Enzyme replacement therapy (ERT) has been shown to clinically benefit affected individuals. A combined treatment regime of ERT and hemopoietic stem cell transplantation (HSCT) has led to reduced morbidity and mortality in patients with MPS I. We have demonstrated that a treatment regime of ERT combined with HSCT in a 3-year-old girl with MPS VI provided similar benefit. This treatment regimen should be considered in the management of selected patients with MPS VI. Neither HSCT nor ERT can correct or completely prevent progression of the musculoskeletal complications. Long-term follow-up and regular assessments for these complications is necessary.

5.
Mol Genet Metab ; 99(1): 34-41, 2010 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19783189

RESUMO

OTC deficiency, a partially dominant X-linked trait, is the most frequent inborn error of the urea cycle. We describe a female patient with a contiguous gene deletion syndrome encompassing the OTC, DMD, RPGR, CYBB and XK genes, amongst others, only manifesting features of OTC deficiency. Molecular characterization was ascertained by MLPA and confirmed by CGH microarray, which revealed an 8.7 Mb deletion of the X-chromosome. Complete de novo deletion of the OTC gene led to a severe clinical phenotype in the proband. The application of high resolution molecular genetic techniques such as MLPA and array CGH, in mutation negative OTC cases allows the identification of chromosomal rearrangements, such as large deletions and provides information for accurate genetic counseling and prenatal diagnosis.


Assuntos
Deleção Cromossômica , Deleção de Genes , Doença da Deficiência de Ornitina Carbomoiltransferase/genética , Ornitina Carbamoiltransferase/genética , Mapeamento Cromossômico , Cromossomos Humanos X/genética , Hibridização Genômica Comparativa , Saúde da Família , Feminino , Genes Ligados ao Cromossomo X , Humanos , Lactente , Técnicas de Amplificação de Ácido Nucleico , Doença da Deficiência de Ornitina Carbomoiltransferase/diagnóstico , Síndrome
6.
J Inherit Metab Dis ; 31(4): 503-7, 2008 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-18683078

RESUMO

Glutaric aciduria type I (GA I), a cerebral organic acidaemia with the potential for severe neurological consequences, can now be detected by tandem mass spectrometry newborn screening. Early detection with implementation of careful management strategies appears to lessen the likelihood of neurological damage. We assessed the outcome in all 10 GA I patients detected in New South Wales during the last decade. Three patients were detected clinically and 7 by newborn screening. Diagnosis was confirmed by detection of significantly elevated urinary 3-hydroxybutyrate and glutarate in urine, isolated elevation of glutarylcarnitine in plasma, typical clinical and MRI findings in several, and mutation analysis or enzyme analysis on cultured skin fibroblasts in 4 cases. The birth frequency was 1:90,000. Following diagnosis, treatment was initiated in all children with oral carnitine (100 mg/kg per day) and a low-protein diet supplemented with a lysine-free, low-tryptophan amino acid formula. Disability was assessed in fields of motor, cognitive and speech development and scored according to Kyllerman. Clinically diagnosed patients were all symptomatic, with severity scores (out of 9) of 3, 5 and 9. Six of seven patients detected by newborn screening are asymptomatic, 4 being aged 2-6 years. One patient had a severe decompensation at 7 months, despite full management advice and treatment, and later died. Our data support previous findings that early diagnosis reduces neurological complications, but show that even with early diagnosis and careful management severe complications may ensue in some.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Glutaril-CoA Desidrogenase/deficiência , Triagem Neonatal , Erros Inatos do Metabolismo dos Aminoácidos/patologia , Estudos de Coortes , Progressão da Doença , Feminino , Seguimentos , Humanos , Recém-Nascido , Masculino , Triagem Neonatal/métodos , Prognóstico , País de Gales
7.
J Autism Dev Disord ; 37(9): 1636-46, 2007 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-17180458

RESUMO

This paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT). Components include a parent-report checklist, and video filming and coding protocols that contain items on eating, drinking, communication, hand function and movements, personal care and mobility. Ninety-seven of the 169 families who initially agreed to participate returned a videotape within 8 months of the first request. Subjects whose videos were returned had a similar age profile to those who did not provide a video but were more likely to have classical than atypical RTT. Evidence of the content and social validity and inter-rater reliability on 11 videos is provided. Video may provide detailed, objective assessment of function and behaviour in RTT.


Assuntos
Síndrome de Rett/diagnóstico , Gravação de Videoteipe , Adolescente , Adulto , Criança , Diagnóstico Diferencial , Estudos de Viabilidade , Feminino , Humanos , Masculino , Transtornos dos Movimentos/diagnóstico , Transtornos dos Movimentos/etiologia , Fenótipo , Síndrome de Rett/complicações
8.
Neurology ; 67(1): 164-6, 2006 Jul 11.
Artigo em Inglês | MEDLINE | ID: mdl-16832102

RESUMO

MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy: seven of nine with affected sisters and two de novo. The authors report four de novo occurrences: three pathogenic and one potentially pathogenic. Common features include failure to thrive, respiratory insufficiency, microcephaly, and abnormal motor control. MECP2 mutations should be assessed in boys with progressive encephalopathy and one or more of respiratory insufficiency, abnormal movements or tone, and intractable seizures.


Assuntos
Proteína 2 de Ligação a Metil-CpG/genética , Mutação , Síndrome de Rett/genética , Córtex Cerebral/patologia , Pré-Escolar , Análise Mutacional de DNA , Humanos , Lactente , Imageamento por Ressonância Magnética/métodos , Masculino , Síndrome de Rett/patologia , Síndrome de Rett/fisiopatologia
9.
J Med Genet ; 42(1): 1-7, 2005 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-15635068

RESUMO

Rett syndrome (RS) is a severe neurodevelopmental disorder that contributes significantly to severe intellectual disability in females worldwide. It is caused by mutations in MECP2 in the majority of cases, but a proportion of atypical cases may result from mutations in CDKL5, particularly the early onset seizure variant. The relationship between MECP2 and CDKL5, and whether they cause RS through the same or different mechanisms is unknown, but is worthy of investigation. Mutations in MECP2 appear to give a growth disadvantage to both neuronal and lymphoblast cells, often resulting in skewing of X inactivation that may contribute to the large degree of phenotypic variation. MeCP2 was originally thought to be a global transcriptional repressor, but recent evidence suggests that it may have a role in regulating neuronal activity dependent expression of specific genes such as Hairy2a in Xenopus and Bdnf in mouse and rat.


Assuntos
Proteína 2 de Ligação a Metil-CpG/genética , Proteínas Serina-Treonina Quinases/genética , Síndrome de Rett/genética , Animais , Modelos Animais de Doenças , Humanos , Mutação , Neurônios/fisiologia
10.
Arch Dis Child ; 88(1): 38-43, 2003 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-12495959

RESUMO

BACKGROUND: Mutations in the MECP2 gene have been recently identified as the cause of Rett syndrome, prompting research into genotype-phenotype relations. However, despite these genetic advances there has been little descriptive epidemiology of the full range of phenotypes. AIMS: To describe the variation in phenotype in Rett syndrome using four different scales, by means of a population database. METHODS: Using multiple sources of ascertainment including the Australian Paediatric Surveillance Unit, the development of an Australian cohort of Rett syndrome cases born since 1976 has provided the first genetically characterised population based study of Rett syndrome. Follow up questionnaires were administered in 2000 to families and used to provide responses for items in four different severity scales. RESULTS: A total of 199 verified cases of Rett syndrome were reported between January 1993 and July 2000; 152 families provided information for the follow up study. The mean score using the Kerr scale was 22.9 (SD 4.8) and ranged from 20.5 in those under 7 years to 24.2 in those over 17 years. The mean Percy score was 24.9 (SD 6.6) and also increased with age group from 23.0 to 26.9. The mean Pineda score was 16.3 (SD 4.5) and did not differ by age group. The mean WeeFIM was 29.0 (SD 11.9), indicating extreme dependence, and ranged from 18 to 75. CONCLUSION: We have expanded on the descriptive epidemiology of Rett syndrome and shown different patterns according to the severity scale selected. Although all affected children are severely functionally dependent, it is still possible to identify some variation in ability, even in children with identified MECP2 mutations.


Assuntos
Proteínas Cromossômicas não Histona , Proteínas Repressoras , Síndrome de Rett/classificação , Índice de Gravidade de Doença , Adolescente , Austrália , Criança , Pré-Escolar , Proteínas de Ligação a DNA/genética , Bases de Dados Factuais , Feminino , Seguimentos , Humanos , Lactente , Masculino , Proteína 2 de Ligação a Metil-CpG , Mutação , Fenótipo , Síndrome de Rett/diagnóstico , Síndrome de Rett/genética , Inquéritos e Questionários
11.
J Paediatr Child Health ; 38(5): 511-7, 2002 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-12354271

RESUMO

Inborn errors of metabolism are individually rare, but collectively are responsible for significant levels of paediatric morbidity and mortality. More than 400 biochemically diverse inborn errors of metabolism have been identified. Recent advances in the diagnosis and treatment of these disorders have substantially improved the prognosis for many of them. Paediatricians and neonatologists play a vital role in identifying which patients need to be investigated. The diagnosis of an inborn error of metabolism often needs to be established quickly in order to prevent death or permanent neurological sequelae, and this should be carried out in collaboration with a specialized unit. The present review provides a practical approach to the recognition and investigation of neonates in whom an inborn error may be present. We also provide guidelines for the stabilization and initial management of infants at high risk of a metabolic disorder.


Assuntos
Erros Inatos do Metabolismo , Neonatologia , Papel do Médico , Humanos , Recém-Nascido , Erros Inatos do Metabolismo/diagnóstico , Erros Inatos do Metabolismo/genética , Erros Inatos do Metabolismo/fisiopatologia
12.
Brain Dev ; 23 Suppl 1: S85-9, 2001 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-11738848

RESUMO

Treatment strategies in Rett syndrome so far have been essentially symptomatic and supportive. In order to establish the medium-term effects of L-carnitine, an open label trial was performed in a cohort of 21 Rett syndrome females, with a control group of 62 Rett syndrome females of a similar age, for a 6-month period. Compared with the Rett syndrome controls, treatment with L-carnitine led to significant improvements in sleep efficiency (P=0.027), especially in the subjects with a baseline sleep efficiency less than 90%, energy level (P<0.005) and communication skills (P=0.004). There was no significant difference in the subject's level of physical activity, hand function or in the quality of life of the subject's parents. In addition, before and after comparisons of the treatment group showed improvements in expressive speech (P=0.011). Treatment with L-carnitine seems to be of significant benefit in a subgroup of girls with Rett syndrome. In these girls, small but discernible improvements may be of considerable importance to their parents and carers.


Assuntos
Carnitina/uso terapêutico , Recuperação de Função Fisiológica/efeitos dos fármacos , Síndrome de Rett/tratamento farmacológico , Adolescente , Adulto , Apraxias/tratamento farmacológico , Apraxias/etiologia , Apraxias/fisiopatologia , Carnitina/sangue , Criança , Feminino , Inquéritos Epidemiológicos , Humanos , Recuperação de Função Fisiológica/fisiologia , Transtornos Respiratórios/tratamento farmacológico , Transtornos Respiratórios/etiologia , Transtornos Respiratórios/fisiopatologia , Síndrome de Rett/fisiopatologia , Transtornos do Sono-Vigília/tratamento farmacológico , Transtornos do Sono-Vigília/etiologia , Transtornos do Sono-Vigília/fisiopatologia , Distúrbios da Fala/tratamento farmacológico , Distúrbios da Fala/etiologia , Distúrbios da Fala/fisiopatologia , Inquéritos e Questionários , Resultado do Tratamento
13.
Brain Dev ; 23 Suppl 1: S101-3, 2001 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-11738852

RESUMO

The sleep patterns of a cohort of 83 Rett syndrome females were characterized using a sleep diary for 7 consecutive days and nights and compared with normative sleep data. The mean total sleep time of the cohort was 10.75 h, daytime sleep 0.77 h, sleep efficiency 89.7%, and sleep latency 0.52 h. When subjects were categorized according to age and Rett syndrome classification, there was no significant difference in their sleep characteristics. There was a significant difference in the percentage predicted total sleep time (P<0.001) and Z scores for total sleep time (P<0.001), when subjects were categorized according to age and compared with normal children. The Rett syndrome subjects in this study did not show the age related decrease in total and daytime sleep time seen in normal children. The immature sleep pattern demonstrated in this cohort, may be a consequence of arrested brain development.


Assuntos
Síndrome de Rett/fisiopatologia , Transtornos do Sono-Vigília/fisiopatologia , Sono/fisiologia , Adolescente , Fatores Etários , Encéfalo/crescimento & desenvolvimento , Encéfalo/fisiopatologia , Criança , Pré-Escolar , Estudos de Coortes , Epilepsia/etiologia , Epilepsia/fisiopatologia , Feminino , Humanos , Transtornos dos Movimentos/etiologia , Transtornos dos Movimentos/fisiopatologia , Transtornos do Sono-Vigília/etiologia
14.
Clin Dysmorphol ; 10(3): 185-8, 2001 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-11446411

RESUMO

Rett syndrome (RTT) is a severe neurodevelopmental disorder. Apparently normal at birth, girls with RTT undergo developmental regression and acquire a neurological and behavioural phenotype that has been used to define clinical diagnostic criteria for the disorder. Recently mutations in the methyl-CpG binding protein 2 gene (MECP2), located on Xq28 have been identified in females with RTT. We report a girl whose clinical course was complicated by congenital abnormalities of the respiratory tract and gastrointestinal system. In addition neurological abnormalities were evident in the newborn period. By the age of 3 years she had developed a phenotype very suggestive of RTT, but had not demonstrated deceleration of head growth and the development of expressive language was prevented by the presence of the tracheostomy. The clinical impression of RTT was confirmed by the recent finding of a mutation in the MECP2 gene. This case report highlights the importance of considering the clinical diagnosis of RTT even in the presence of other conditions and emphasises that girls with RTT may not be normal from birth.


Assuntos
Anormalidades Múltiplas/genética , Proteínas Cromossômicas não Histona , Proteínas de Ligação a DNA/genética , Proteínas Repressoras , Síndrome de Rett/genética , Cromossomo X , Anormalidades Múltiplas/diagnóstico , Criança , Feminino , Testes Genéticos , Humanos , Proteína 2 de Ligação a Metil-CpG , Síndrome de Rett/complicações , Síndrome de Rett/diagnóstico
15.
J Child Neurol ; 16(5): 333-8, 2001 May.
Artigo em Inglês | MEDLINE | ID: mdl-11392517

RESUMO

The neurologic disorder Rett syndrome was originally described exclusively in girls. We present two boys with clinical features of Rett syndrome. Other than head circumference deceleration, no longer considered mandatory, patient 1 meets all of the criteria. Using fluorescent in situ hybridization analysis, 97.6% of cells were found to be karyotypically normal (46,XY). No mutation was detected on screening of the coding region of the MECP2 gene. The second patient also has classic features of Rett syndrome. However, cytogenetic analysis of peripheral blood revealed a karyotype 47,XXY[23]/46,XY[7] confirming mosaicism for Klinefelter's syndrome. A T158M missense mutation in the methylcytosine-binding domain of the MECP2 gene was identified. A diagnostic bias against the clinical identification of Rett syndrome in boys may exist. This presentation of the male phenotype could be more common than it would appear, although boys with MECP2 mutations might also manifest in other ways. Rett syndrome remains a clinical diagnosis that should not be dismissed in boys, and thorough evaluation including karyotype and mutation testing is warranted.


Assuntos
Proteínas Cromossômicas não Histona , Proteínas Repressoras , Síndrome de Rett/epidemiologia , Encéfalo/patologia , Criança , Pré-Escolar , Proteínas de Ligação a DNA/genética , Eletroencefalografia , Humanos , Incidência , Imageamento por Ressonância Magnética , Masculino , Proteína 2 de Ligação a Metil-CpG , Mutação Puntual/genética , Reação em Cadeia da Polimerase , Síndrome de Rett/diagnóstico , Síndrome de Rett/genética
16.
Brain Dev ; 23(4): 208-11, 2001 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-11376997

RESUMO

An international group recommends that papers relating phenotypes to genotypes involving mutations in the X chromosome gene MECP2 should provide a minimum data set reporting the range of disturbances frequently encountered in Rett Syndrome. A simple scoring system is suggested which will facilitate comparison among the various clinical profiles. Features are described which should prompt screening for MECP2 mutations.


Assuntos
Proteínas Cromossômicas não Histona , Proteínas de Ligação a DNA/genética , Mecanismo Genético de Compensação de Dose , Mutação/genética , Proteínas Repressoras , Síndrome de Rett/genética , Feminino , Humanos , Masculino , Proteína 2 de Ligação a Metil-CpG , Fenótipo , Síndrome de Rett/diagnóstico
17.
Disabil Rehabil ; 23(3-4): 98-106, 2001.
Artigo em Inglês | MEDLINE | ID: mdl-11247014

RESUMO

PURPOSE: Rett syndrome is a neurodevelopmental disorder that occurs almost exclusively in females. In recent years there has been increased knowledge concerning the multidisciplinary management of individuals with Rett syndrome. The aim of this paper is to provide an update of the clinical phenotype, natural history and current genetic understanding of the disorder. RESULTS/CONCLUSION: Rett syndrome is thought to be the second most common cause of severe mental retardation in females after Down syndrome. it now appears that females with RS present with a much broader phenotype than originally described. Recently, mutations in the MECP2 gene encoding X-linked methyl-CpG-binding-protein 2 have been identified in some females with Rett syndrome.


Assuntos
Proteínas Cromossômicas não Histona , Proteínas Repressoras , Síndrome de Rett/diagnóstico , Síndrome de Rett/genética , Idade de Início , Proteínas de Ligação a DNA/genética , Diagnóstico Diferencial , Progressão da Doença , Ligação Genética/genética , Humanos , Proteína 2 de Ligação a Metil-CpG , Biologia Molecular , Mutação/genética , Neuroquímica , Equipe de Assistência ao Paciente , Fenótipo , Síndrome de Rett/classificação , Síndrome de Rett/epidemiologia , Distribuição por Sexo , Cromossomo X/genética
18.
J Inherit Metab Dis ; 24(8): 824-32, 2001 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-11916315

RESUMO

Tyrosinaemia type III is a rare disorder caused by a deficiency of 4-hydroxyphenylpyruvate dioxygenase, the second enzyme in the catabolic pathway of tyrosine. The majority of the nine previously reported patients have presented with neurological symptoms after the neonatal period, while others detected by neonatal screening have been asymptomatic. All have had normal liver and renal function and none has skin or eye abnormalities. A further four patients with tyrosinaemia type III are described. It is not clear whether a strict low tyrosine diet alters the natural history of tyrosinaemia type III, although there remains a suspicion that treatment may be important, at least in infancy.


Assuntos
Tirosinemias/dietoterapia , Tirosinemias/etiologia , 4-Hidroxifenilpiruvato Dioxigenase/deficiência , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Inteligência , Masculino , Triagem Neonatal , Resultado do Tratamento , Tirosina/sangue , Tirosinemias/diagnóstico , Tirosinemias/psicologia
19.
J Inherit Metab Dis ; 24(5): 599-600, 2001 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-11757588

RESUMO

A female patient with atypical nonketotic hyperglycinaemia is reported having undergone two successful pregnancies. During pregnancy, plasma glycine was raised. Neuropsychometric outcome of both offspring shows IQs average for population.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/sangue , Glicina/sangue , Adulto , Erros Inatos do Metabolismo dos Aminoácidos/dietoterapia , Proteínas Alimentares/administração & dosagem , Proteínas Alimentares/uso terapêutico , Feminino , Glicina/líquido cefalorraquidiano , Humanos , Gravidez , Resultado da Gravidez
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