20 documents found, page 1 of 2

Congenital disorders of glycosylation

Abstract Congenital disorders of glycosylation are a highly variable, rapidly expanding family of genetic diseases that result from defects in the synthesis of glycans. The vast majority of these monogenic diseases are inherited in an autosomal recessive way, but some types follow an autosomal dominant or X-linked inheritance. The present work aimed to review the state of the art of congenital disorders of glyc...

Inherited metabolic disorders: a century of evolution

TYROSINEMIA TYPE III: A CASE REPORT OF SIBLINGS AND LITERATURE REVIEW

ABSTRACT Objective: Tyrosinemia type III (HT III) is the rarest form of tyrosinemia, and the full clinical spectrum of this disorder is still unknown. The neurological involvement varies, including intellectual impairment and attention deficit disorder with hyperactivity (ADHD). We report the case of two siblings diagnosed with HT III at different ages. Case description: The index case was diagnosed by newborn ...

Fatty Liver Caused by Glycogen Storage Disease Type IX: A Small Series of Cases...

Background: The prevalence of non-alcoholic fatty liver disease (NAFLD) affecting children and adolescents has increased dramatically in recent years. This increase is most probably related to the obesity pandemic and the high consumption of fructose. However, hepatic steatosis has some rare causes (e.g., some metabolic diseases) of which clinicians should be aware, particularly (but not only) when patients are...

Metabolic Control in Patients With Phenylketonuria Pre- and Post-Sapropterin Lo...

Abstract In Portugal, tetrahydrobiopterin (BH4)-responsive patients with phenylketonuria (PKU) are identified using a loading test (LT). Phenylalanine/natural protein (Phe/NP) intake is increased to elevate blood Phe prior to the LT. In a longitudinal retrospective study, the impact of Phe/NP titration post-LT in 58 patients (19.6 + 8.2 years) with PKU during 4 study periods (SPs) was examined. In SP1 (2010-201...

Quando a ecografia cardíaca revela a ponta do iceberg

Cardiomiopatia dilatada: qual a etiologia?

Síndrome dismórfico em recém-nascido com hipocolesterolemia

Introdução: São diversas as patologias causadas por erros na biossíntese do colesterol, sendo a síndrome de Smith-Lemli-Opitz a mais frequente. Caso Clínico: Lactente, sexo masculino internado aos 31 dias de vida por dificuldades alimentares e má progressão ponderal. Apresentava síndrome dismórfica (anomalias esqueléticas pós-axiais), hipotonia axial, movimentos espontâneos e reflexos débeis Do estudo realizado...

Insuficiência hepática no recém-nascido e rastreio endócrino-metabólico

Esplenomegalia persistente assintomática: um achado não tranquilizador