Evidence map›Paper›PMID 36598177›Full record

ArticleJournal of clinical research in pediatric endocrinology2024

Mild Aromatic L-Amino Acid Decarboxylase Deficiency Causing Hypoketotic Hypoglycemia in a 4-year-old Girl

Merve Yoldaş Çelik, Ebru Canda, Havva Yazıcı, Fehime Erdem, Ayşe Yüksel Yanbolu, Ayça Aykut, Asude Durmaz, Ahmet Anık, Sema Kalkan Uçar, Mahmut Çoker

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In one paragraph

Article in Journal of clinical research in pediatric endocrinology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.6field-weighted citation impact, top 36% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 3 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 2 institutions in 1 country.

Merve Yoldaş ÇelikEge University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, TurkeyORCID 0000-0003-0015-9807
Ebru CandaEge University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, TurkeyORCID 0000-0002-9175-1998
Havva YazıcıEge University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, TurkeyORCID 0000-0002-2564-7420
Fehime ErdemEge University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, TurkeyORCID 0000-0002-5597-9290
Ayşe Yüksel YanboluEge University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, TurkeyORCID 0000-0002-1358-8240
Ayça AykutEge University Faculty of Medicine, Department of Medical Genetics, İzmir, TurkeyORCID 0000-0002-1460-0053
Asude DurmazEge University Faculty of Medicine, Department of Medical Genetics, İzmir, TurkeyORCID 0000-0002-4109-9401
Ahmet AnıkAydın Adnan Menderes University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Endocrinology, Aydın, TurkeyORCID 0000-0002-7729-7872
Sema Kalkan UçarEge University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, TurkeyORCID 0000-0001-9574-7841
Mahmut ÇokerEge University Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Metabolism and Nutrition, İzmir, TurkeyORCID 0000-0001-6494-9539
Ege University · TRAdnan Menderes University · TR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Aromatic L-amino acid decarboxylase (AADC) deficiency is a disease in which neurological findings are dominant due to deficiencies in neurotransmitter synthesis. Hypoglycemia caused by autonomic dysfunction is one of the symptoms that may be encountered. Here we report a case of mild AADC deficiency presenting with hypoglycemia without any neurological signs. A 4-year-old girl presented with recurrent hypoglycemia. Her growth and development were normal. Plasma insulin and cortisol values were normal in the sample at the time of hypoglycemia. C8:1-Carnitine elevation was detected in the acylcarnitine profile. A clinical exome panel was performed with the suggestion of a fatty acid oxidation defect. However, a homozygous variant in the

Indexed as

Amino Acid Metabolism, Inborn ErrorsAromatic-L-Amino-Acid DecarboxylasesHypoglycemiaChild, PreschoolFemaleHumansAromatic-L-Amino-Acid DecarboxylasesAADC deficiencyAromatic L-amino acid decarboxylase deficiencyhypoglycemianeurotransmitter deficiency

Identifiers

PMID36598177
PMCPMC11590768
OpenAlexW4313488326

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.