ASIM Consiles
Expert-Network Promotes Advancement in Quality of Medical Care
ASIM Initiates Regular Exchange Between Experts in Inborn Errors of Metabolism
„Not only patients and their family members benefit from the mutual exchange of views and experiences. In order to meet the need for regular exchange on clinical issues in the care of adult patients, the Association for the Study of Inborn Errors of Metabolism (ASIM) has extablished telephone conferences for physicians, dieticians and other experts in inborn errors of metabolism.
These “ASIM Councils” will prospectively be held two to four times a year. ASIM experts may discuss any clinical questions and problems. These may relate to diagnostics, treatment or ethical questions including specific anonymized individual cases.
As a result of the need-based exchange of information, these councils may make an essential and immediate contribution to improving the quality of medical care for adult patients. Not only physicians who have previously had little experience with patients suffering from in born errors of metabolism benefit from the knowledge of their experienced colleagues. Concomitantly, the ASIM gains an overview of the most important questions and treatment aspects, conducive for further continuing medical education and research projects….“ 1
1 published in the magazine PHEline by the Association DIG PKU (German Interest Group Phenylketonuria and Related Inborn Errors of Metabolism e.V.)
Consiles
No. | Date | Diagnosis |
2020-001 | Feb 25, 2020 | Amyotrophic Lateral Sclerosis |
2020-002 | Feb 25, 2020 | Suspected Gaucher Disease |
2020-003 | May 19, 2020 | M. Gaucher/ chronic pain syndrome |
2020-004 | May 19, 2020 | Glycogenosis Type 1a |
2020-005 | May 19, 2020 | Class. type I homocystinuria (CBS deficiency) |
2020-006 | Aug 18, 2020 | Atypical PKU (Tetrahydropterin-Synthase Deficiency) |
2020-007 | Aug 18, 2020 | Glycogenosis 1a |
2020-008 | Aug 18, 2020 | Fructose-1-6-Biphophatase deficiency |
2020-009 | Aug 18, 2020 | Diagnostic verification M. Gaucher |
2020-010 | Nov 17, 2020 | M. Gaucher type 1 |
2020-011 | Nov 17, 2020 | M. Gaucher |
2020-012 | Nov 17, 2020 | Hyperchylomicronaemia |
2021-001 | Feb 16, 2021 | M. Gaucher / chron. hepatitis C1B / condition after Covid-Infection |
2021-002 | Feb 16, 2021 | M. Gaucher Type I (non-neuronopathic), condition after pneumonia |
2021-003 | Feb 16, 2021 | Acute intermittent porphyria |
2021-004 | May 18, 2021 | Acid Sphingomyelinase Deficiency (ASMD) |
2021-005 | May 18, 2021 | M. Gaucher |
2021-006 | May 18, 2021 | Familial chylomicronaemia syndrome (FCS) |
2021-007 | May 18, 2021 |
Follow-up to case 2020-007 Triglycerides often >8000 mg/dl |
2021-008 | May 18, 2021 | Alkaptonuria |
2021-009 | May 18, 2021 | M. Gaucher |
2021-010 | Oct 12, 2021 | Alkaptonuria |
2021-011 | Oct 12, 2021 | Unclear splenomegaly/unspecific alterations in the bone |
2021-012 | Oct 12, 2021 | Irritable bowel, increased methylmalonic acid |
2021-013 | Oct 12, 2021 | PKU-patients and SARS-Cov-2-vaccinations with mRNA vaccines |
2022-001 | Jan 18, 2022 | PKU |
2022-002 | Jan 18, 2022 | M. Gaucher |
2022-003 | Jan 18, 2022 | Homocystinuria |
2022-004 | Jan 18, 2022 | Mitochondrial trifunctional protein (MTP) deficiency |
2022-005 | May 24, 2022 | Glycogenosis Type 1a, 2 liver lesions |
2022-006 | August 23, 2022 | M. Gaucher? |
2022-007 | August 23, 2022 | Lysosomal acid lipase deficiency (LAL-D) |
2022-008 | Nov 11, 2022 | M. Gaucher |
2022-009 | Nov 11, 2022 | Atypical PKU |
2022-010 | Nov 11, 2022 | Alkaptonuria |
2023-001 | Febr 21, 2023 | Alkaptonuria |
2023-002 | Febr 21, 2023 | Abetalipoproteinemia |
2023-003 | Febr 21, 2023 | Alpha-mannosidosis |
2023-004 | May 16, 2023 | Primary systemic carnitine deficiency |
2023-005 | May 16, 2023 | Slight OTC deficiency |
2023-006 | August 15, 2023 | Hereditary hyperchylomicronaemia |
2023-007 | August 15, 2023 | Typical PKU |
2023-008 | August 15, 2023 | Polygenic hypertriglyceridemia |
2023-009 | November 21, 2023 | Methylmalonaciduria Mut 0 |
2024-001 | Febr 20, 2024 | M. Gaucher Type 1 |
2024-002 | Febr 20, 2024 | Heterocygotic Acid Sphingomyelinase Deficiency |
2024-003 | August 20, 2024 | Pathogenic variant M. Pomope |
2024-004 | August 20, 2024 | Acid Sphingomyelinase Deficiency |
2024-005 | August 20, 2024 | M. Fabry |