PMID: 2497426Jan 1, 1989Paper

Maple syrup urine disease and cystathioninemia

Pädiatrie und Pädologie
B SimmaH Berger

Abstract

We report of our experience a case of a patient with the classic type of Maple Syrup Urine Disease (MSUD) and the rare combination with a secondary Cystathioninemia. The screening of newborns in terms of looking for MSUD has been terminated in 1979 because the number of cases was too small. An 8 days old boy was admitted to our hospital in al lifethreatening state with unspecific neurological symptoms. We were able to diagnose the MSUD in 36 hours. Although we succeeded in decreasing the plasma leucin level by an exchange transfusion and a continuous arteriovenous hemofiltration over 3 days, the leucin level again increased to neurotoxic levels. Finally we managed the leveling by applying a high caloric parenteral and enteral intake. Also a substitution of valin and isoleucin was necessary. The goal of the long-term treatment with a life-long diet with fixed quantities of BCCAs is to adjusted the plasma leucin level to 100-700 mumol/l, the valin and isoleucin level to 200-300 mumol/l. In summary we want to point out, that the diagnosis for the MSUD should be done early enough, to start the successfull therapy, as described above, and to improve the prognosis.

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.