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[Maple syrup urine disease and cystathioninemia].
Padiatr Padol. 1989; 24(1):69-75.PP

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.

Authors+Show Affiliations

Simma B
Universitäts-Kinderklinik, Innsbruck.
Sperl W
No affiliation info available
Berger H
No affiliation info available

MeSH

Amino Acid Metabolism, Inborn ErrorsCystathionineEnteral NutritionFollow-Up StudiesHumansInfantInfant, NewbornIsoleucineLeucineMaleMaple Syrup Urine DiseaseParenteral Nutrition, TotalValine

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

ger

PubMed ID

2497426

Citation

Simma, B, et al. "[Maple Syrup Urine Disease and Cystathioninemia]." Padiatrie Und Padologie, vol. 24, no. 1, 1989, pp. 69-75.
Simma B, Sperl W, Berger H. [Maple syrup urine disease and cystathioninemia]. Padiatr Padol. 1989;24(1):69-75.
Simma, B., Sperl, W., & Berger, H. (1989). [Maple syrup urine disease and cystathioninemia]. Padiatrie Und Padologie, 24(1), 69-75.
Simma B, Sperl W, Berger H. [Maple Syrup Urine Disease and Cystathioninemia]. Padiatr Padol. 1989;24(1):69-75. PubMed PMID: 2497426.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Maple syrup urine disease and cystathioninemia]. AU - Simma,B, AU - Sperl,W, AU - Berger,H, PY - 1989/1/1/pubmed PY - 1989/1/1/medline PY - 1989/1/1/entrez SP - 69 EP - 75 JF - Padiatrie und Padologie JO - Padiatr Padol VL - 24 IS - 1 N2 - 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. SN - 0030-9338 UR - https://www.unboundmedicine.com/medline/citation/2497426/[Maple_syrup_urine_disease_and_cystathioninemia]_ L2 - https://www.diseaseinfosearch.org/result/4453 DB - PRIME DP - Unbound Medicine ER -