Compound heterozygotes in hyperphenylalaninemia
نویسندگان
چکیده
منابع مشابه
Micronutrient in hyperphenylalaninemia
The data presented here are the biochemical parameters of 156 patients with hyperphenylalaninemia. PKU patients, who, in order to maintain optimal serum Phe concentrations, receive dietary treatment consisting of a diet low in natural protein supplemented with special low protein foods and a Phe-free amino acid mixture, vitamins and minerals. The obtained data reflects a high percentage of pati...
متن کاملNeurocognitive function in mild hyperphenylalaninemia.
AIM The purpose of this review was to provide an update on cognitive function in individuals with mild hyperphenylalaninemia (mHPA), the most clinically and biochemically benign form of phenylketonuria. METHOD A review was conducted of the existing literature on mHPA. Individuals with mHPA, whose plasma phenylalanine concentration had always remained lower than 360 μmol/L without dietary rest...
متن کاملCognitive functioning in mild hyperphenylalaninemia
Hyperphenylalaninemia is a hereditary metabolic disorder that causes elevated blood phenylalanine (Phe). Hyperphenylalaninemias are classified as Phenylketonuria PKU (Phe > 6 mg/dL) or mild hyperphenylalaninemia (mHPA) (Phe 2–6 mg/dL). This study examines the cognitive functioning of early diagnosed children with mHPA compared with early diagnosed and treated children with PKU.Psychomotor devel...
متن کاملDoes the severity of the LGMD2A phenotype in compound heterozygotes depend on the combination of mutations?
INTRODUCTION Limb-girdle muscular dystrophy type 2A (LGMD2A) is caused by a deficiency of calpain-3/p94. Although the symptoms in most LGMD2A patients are generally homogeneous, some variation in the severity and progression of the disease has been reported. METHODS We describe 2 patients who carry the same combination of compound heterozygous mutations (pG222R/pR748Q) and whose symptoms are ...
متن کاملMildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles
Background A high level of succinylacetone (SA) in blood is a sensitive, specific marker for the screening and diagnosis of hepatorenal tyrosinemia (HT1, MIM 276700). HT1 is caused by mutations in the FAH gene, resulting in deficiency of fumarylacetoacetate hydrolase. HT1 newborns are usually clinically asymptomatic, but have coagulation abnormalities revealing liver dysfunction. Treatment with...
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ژورنال
عنوان ژورنال: Human Genetics
سال: 1984
ISSN: 0340-6717,1432-1203
DOI: 10.1007/bf00291372