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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.)

No. Date  Diagnosis General Question
2020-001 Feb 25, 2020 Amyotrophic Lateral Sclerosis Immune absorption
as therapeutic option
2020-002 Feb 25, 2020 Suspected Gaucher Disease Indication for ERT
2020-003 May 19, 2020 M. Gaucher/ chronic pain syndrome Pain related to M. Gaucher?
2020-004 May 19, 2020 Glycogenosis Type 1a Regenerate node in liver typical?
2020-005 May 19, 2020 Class. type I homocystinuria (CBS deficiency) Gravida: oral application of Betain?
2020-006 Aug 18, 2020 Atypical PKU
(Tetrahydropterin-Synthase Deficiency)
Pause or continue Sapropterin ?
2020-007 Aug 18, 2020 Glycogenosis 1a 1. Further TG-lowering measures?
2. Application of Volanisorsen?
2020-008 Aug 18, 2020 Fructose-1-6-Biphophatase deficiency Experiences in adult patients and
co-factors, if applicabble?
2020-009 Aug 18, 2020 Diagnostic verification M. Gaucher Indication of M. Gaucher?
2020-010 Nov 17, 2020 M. Gaucher type 1 Eliglustat?
2020-011 Nov 17, 2020 M. Gaucher Cerdelga ineffective? ERT indicated?
2020-012 Nov 17, 2020 Hyperchylomicronaemia Volanesorsen?
2021-001 Feb 16, 2021 M. Gaucher / chron. hepatitis C1B /
condition after Covid-Infection
Aggravation M. Gaucher under Covid?
2021-002 Feb 16, 2021 M. Gaucher Type I (non-neuronopathic),
condition after pneumonia
Pulmon. involvement in M. Gaucher?
2021-003 Feb 16, 2021 Acute intermittent porphyria Indication for Givosiran?
2021-004 May 18, 2021 Acid Sphingomyelinase Deficiency (ASMD) Immune Diagnostics?
2021-005 May 18, 2021 M. Gaucher Change to oral therapy?
2021-006 May 18, 2021 Familial chylomicronaemia syndrome (FCS) Continue with Volanesorsen? Dosage increase?
2021-007 May 18, 2021 Follow-up to case 2020-007
Triglycerides often >8000 mg/dl
Supply via PEG to stabilize
glucose absorption?
2021-008 May 18, 2021 Alkaptonuria Experience with Nitisinon?
2021-009 May 18, 2021 M. Gaucher Dosage increase? Further Diagnostics?
2021-010  Oct 12, 2021 Alkaptonuria Half life/Duration of action/
Therapeutic target?
Nitosinin dosage? Medication?
2021-011  Oct 12, 2021 Unclear splenomegaly/unspecific alterations in the bone Further diagnostics
2021-012  Oct 12, 2021 Irritable bowel, increased methylmalonic acid Further examination?
2021-013  Oct 12, 2021 PKU-patients and SARS-Cov-2-vaccinations with mRNA vaccines Experience/ side effects?
2022-001  Jan 18, 2022 PKU Therapy with Palynziq?
Phe-parameters sufficiently high?
2022-002  Jan 18, 2022 M. Gaucher Therapy with Eliglustat?
2022-003   Jan 18, 2022 Homocystinuria Homocystinuria without homocystinuria?
2022-004  Jan 18, 2022 Mitochondrial trifunctional protein (MTP) deficiency Experience with Trihepatoin Therapy?
2022-005 May 24, 2022 Glycogenosis Type 1a, 2 liver lesions Experience? LTX and GSD 1a?
2022-006 August 23, 2022 M. Gaucher? Indication for Therapy?
2022-007 August 23, 2022 Lysosomal acid lipase deficiency (LAL-D) Dosage increase? Lipid lowering therapy?
2022-008 Nov 11, 2022 M. Gaucher Specific osteoporosis therapy?
If so, osteoanabolic or antiresoprtive?
2022-009 Nov 11, 2022 Atypical PKU As to prolactin: accept or increase of
Nacom or increase of Rizatriptan or Cabergolin?
2022-010 Nov 11, 2022 Alkaptonuria Orfadin 4mg\ml suspension,SUS 90 ml|0,1 ml/d reasonable?
2023-001 Febr 21, 2023 Alkaptonuria Varying dosages Orfadin?
Experience with Orfadin and statins?
Checking homogentisic acid invariably
in 24-h-timed urine sample and tyrosine in blood?
2023-002 Febr 21, 2023 Abetalipoproteinemia How to optimize therapy when
therapy compliance is limited as to infusions?
2023-003 Febr 21, 2023 Alpha-mannosidosis Which parameters to determine the course of the disorder?
Which parameters as to continuation of therapy?
2023-004 May 16, 2023 Primary systemic carnitine deficiency Carnitine supplementation?
Which follow-ups? Target values?
2023-005 May 16, 2023 Slight OTC deficiency Arginine? Which follow-ups?
Target values?
2023-006 August 15,2023 Hereditary hyperchylomicronaemia Further Measures?
2023-007 August 15,2023 Typical PKU Continue or terminate Pegvaliase-therapy?
2023-008 August 15,2023 Polygenic hypertriglyceridemia Application of Volanesorsen?
2023-009 November 21, 2023 Methylmalonaciduria Mut 0 Combined liver and kidney transplant?