phenylketonurias/edema

A multimodal MR study including relaxometry, diffusion tensor imaging (DTI), and MR spectroscopy was performed on patients with classical phenylketonuria (PKU) and matched controls, to improve our understanding of white matter (WM) lesions. Relaxometry yields information on myelin loss or

Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism. Phenylalanine hydroxylase is the underlying deficient enzyme. If left untreated, growth failure, microcephaly, global developmental delay, seizures and severe intellectual impairment would characterize the clinical

Early-treated phenylketonuria (PKU) is associated with a range of neuropsychological impairments. Proposed mechanisms for these impairments include dopamine depletion and white matter pathology. Neuroimaging studies demonstrate high-signal intensity in the periventricular white matter in most PKU

We report the case of an asymptomatic 2-month-old infant with 6-pyruvoyltetrahydropterin synthetase deficiency detected through a neonatal phenylketonuria screening program. MR imaging revealed symmetrical lesions in the central tegmental tract with reduced diffusion, which resolved after treatment.

Tetrahydrobiopterin (BH4) is an essential cofactor for nitric oxide synthase (NOS) and is presently used clinically to treat forms of phenylketonuria. BH4 has been reported to restrain superoxide generation of NOS and chemically reduce superoxide. However, there has been no report concerning the

Five patients with childhood scleroderma, were studied from a total group of 50 cases with the disease, 39 of them with diffuse systemic sclerosis and 11 with the CREST syndrome. The average age for these five patients when the disease onset was 13 (the age ranged from 5.5 to 16 years) with an

The objective of neonatal mass screening programs that are obligatory in Poland is an early detection of congenital diseases: hypothyreosis, phenylketonuria and cystic fibrosis. Cystic fibrosis is the most common genetic monogenic disease affecting Caucasian individuals and having an autosomal

The neuropathology of a 6-year-old boy with maple syrup urine disease revealed spongy appearance of the white matter and marked edema of the brainstem. Golgi studies demonstrated aberrant orientation of neurons together with abnormalities of dendrites and dendritic spines. Similar changes were

Inherited metabolic diseases are mostly due to enzyme deficiency in one of numerous metabolic pathways, leading to absence of a compound downstream from and the accumulation of a compound upstream from the deficient metabolite(s). Diseases of intoxication by proteins (aminoacidopathies, organic

The prevalence of individual hereditary metabolic diseases is low, but together they constitute an important group in which pregnancy is of growing interest because patients more often reach adulthood and consider progeny. Hereditary metabolic diseases of the woman, such as hyperhomocystinemia or