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

Contact

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ASIM Secretariat

Irmtraud Peukert

+49 162-8888790

I.Peukert@outlook.de

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53721 Siegburg