Difficult Management of Glucose Homeostasis in a 21-Month-Old Child With Type 1 Diabetes and Unknown Glutaric Aciduria Type I: A Case Report

Marigliano, Marco; Anton, Genan; Sabbion, Alberto; Morandi, Anita; Morandi, Grazia; Degani, Daniela; Maffeis, Claudio

doi:10.2337/dc13-0724

Cited by 3 publications

(2 citation statements)

References 6 publications

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“…2,28,33,35,53,54 In the last three decades, emergency treatment has been established and recommended as an essential part of combined metabolic treatment. 1,24,28,30,34,49,52,56,68,[155][156][157][158] Quality of emergency treatment is the strongest predictor of neurologic outcome, as demonstrated by several studies and a recent meta-analysis. 1,5,30,34 While individuals receiving adequate emergency (and maintenance) treatment mostly remain asymptomatic, inadequate or delayed start of emergency treatment results in a high risk of striatal injury with mostly severe MD.…”

Section: Clinical Relevancementioning

confidence: 95%

“…Since maintenance treatment alone is not sufficient to avoid acute encephalopathic crises, it is essential to conduct intermittent intensified emergency treatment during potentially catabolic episodes, for example, febrile illness, or perioperative/peri‐interventional fasting periods during the first 6 years 2,28,33,35,53,54 . In the last three decades, emergency treatment has been established and recommended as an essential part of combined metabolic treatment 1,24,28,30,34,49,52,56,68,155–158 . Quality of emergency treatment is the strongest predictor of neurologic outcome, as demonstrated by several studies and a recent meta‐analysis 1,5,30,34 .…”

Section: Emergency Treatmentmentioning

confidence: 99%

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Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision

Boy

Mühlhausen²,

Maier

et al. 2022

J of Inher Metab Disea

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Glutaric aciduria type 1 is a rare inherited neurometabolic disorder of lysine metabolism caused by pathogenic gene variations in GCDH (cytogenic location: 19p13.13), resulting in deficiency of mitochondrial glutaryl-CoA dehydrogenase (GCDH) and, consequently, accumulation of glutaric acid, 3-hydroxyglutaric acid, glutaconic acid and glutarylcarnitine detectable by gas chromatography/mass spectrometry (organic acids) and tandem mass spectrometry (acylcarnitines). Depending on residual GCDH activity, biochemical high and low excreting phenotypes have been defined. Most untreated individuals present with acute onset of striatal damage before age 3 (to 6) years, precipitated by infectious diseases, fever or surgery, resulting in irreversible, mostly dystonic movement disorder with limited life expectancy. In some patients, striatal damage develops insidiously. In recent years, the clinical phenotype has been extended by the finding of extrastriatal abnormalities and cognitive dysfunction, preferably in the high excreter group, as well as chronic kidney failure. Newborn screening is the prerequisite for pre-symptomatic start of metabolic treatment with low lysine diet, carnitine supplementation and For affiliation refer to page 29

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Section: Clinical Relevancementioning

confidence: 95%

Section: Emergency Treatmentmentioning

confidence: 99%

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision

Boy

Mühlhausen²,

Maier

et al. 2022

J of Inher Metab Disea

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The long-term treatment of a patient with type 1 diabetes mellitus and glutaric aciduria type 1: the effect of insulin

et al. 2016

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This case provides some insight into the reciprocal interconnections between the two metabolic disorders. Similar pathogenic mechanisms responsible for the neuronal injury might have impacted each other, and a strict relationship between a specific aspect of GA1-impaired metabolism and glucose homeostasis might explain how the tailored management of GA1 was not only effective in controlling the disease, but it also resulted in an improvement in the control of the glycemic profile. What in known: • Glutaric aciduria type 1 (GA1) usually presents in childhood with severe and possibly irreversible neuronal damage, triggered by a catabolic stress • The association of GA1 with other diseases, including type 1 diabetes mellitus (T1DM), is a rare event, complicating the treatment management What is new: • Insulin treatment has a role in preventing GA1 metabolic decompensation, even in the catabolic condition of hypoglycemia • Promoting GA1 metabolic equilibrium by tailoring drug and dietary treatment in our patient affect by T1DM has a positive impact also in improving glycemic balance.

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Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

Boy

Mühlhausen

Maier

et al. 2016

J of Inher Metab Disea

202

297

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Glutaric aciduria type I (GA-I; synonym, glutaric acidemia type I) is a rare inherited metabolic disease caused by deficiency of glutaryl-CoA dehydrogenase located in the catabolic pathways of L-lysine, L-hydroxylysine, and L-tryptophan. The enzymatic defect results in elevated concentrations of glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutaryl carnitine in body tissues, which can be reliably detected by gas chromatography/mass spectrometry (organic acids) and tandem mass spectrometry (acylcarnitines). Most untreated individuals with GA-I experience acute encephalopathic crises during the first 6 years of life that are triggered by infectious diseases, febrile reaction to vaccinations, and surgery. These crises result in striatal injury and consequent dystonic movement disorder; thus, significant mortality and morbidity results. In some patients, neurologic disease may also develop without clinically apparent crises at any age. Neonatal screening for GA-I us being used in a growing number of countries worldwide and is cost effective. Metabolic treatment, consisting of low lysine diet, carnitine supplementation, and intensified emergency treatment during catabolism, is effective treatment and improves neurologic outcome in those individuals diagnosed early; treatment after symptom onset, however, is less effective. Dietary treatment is relaxed after age 6 years and should be supervised by specialized metabolic centers. The major aim of this second revision of proposed recommendations is to re-evaluate the previous recommendations (Kölker et al. J Inherit Metab Dis 30:5-22, 2007b; J Inherit Metab Dis 34:677-694, 2011) and add new research findings, relevant clinical aspects, and the perspective of affected individuals.

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Difficult Management of Glucose Homeostasis in a 21-Month-Old Child With Type 1 Diabetes and Unknown Glutaric Aciduria Type I: A Case Report

Cited by 3 publications

References 6 publications

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision

The long-term treatment of a patient with type 1 diabetes mellitus and glutaric aciduria type 1: the effect of insulin

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

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