Glutaric Aciduria Type 2 Presenting in Adult Life With Hypoglycemia and Encephalopathic Hyperammonemia

Martins, Rute; Guimas, Arlindo; Rocha, Sara; Ribeiro, Rosa Lúcia Rocha; Martins, Esmeralda; Almeida, Manuela Ferreira de; Quelhas, Dulce

doi:10.14740/jmc3840

Cited by 3 publications

(2 citation statements)

References 13 publications

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“…Patients have kidney abnormalities, hypotonia, cardiomyopathies as well as liver abnormalities, weakness, fatigue and myalgia [ 31 ]. The prevalence is 1:250,000 [ 32 ].…”

Section: Resultsmentioning

confidence: 99%

Spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) including renal parenchymal malformations during fetal life and the implementation of prenatal exome sequencing (WES)

Maier

Fangmann

Reinhardt

et al. 2023

Arch Gynecol Obstet

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Objectives and background Congenital malformations of the kidney and urinary tract (CAKUT) have a prevalence of 4–60 in 10,000 livebirths and constitute for 40–50% of all end stage pediatric kidney disease. CAKUT can have a genetic background due to monogenetic inherited disease, such as PKD or ciliopathies. They can also be found in combination with extra-renal findings as part of a syndrome. Upon detection of genitourinary malformations during the fetal anomaly scan the question arises if further genetic testing is required. The purpose of this study was to determine the phenotypic presentation of CAKUT cases and the results of exome analysis (WES). Methods This is a retrospective analysis of 63 fetal cases with a diagnosis of CAKUT or DSD at a single center between August 2018 and December 2022. Results A total of 63 cases (5.6%) out of 1123 matched CAKUT phenotypes including renal parenchyma malformations. In 15 out of 63 WES analysis a pathogenic variant was detected (23.8%). In fetuses with isolated CAKUT the rate of detecting a pathogenic variant on exome sequencing was five out of 44 (11.4%). Ten out of 19 fetuses (52.6%) that displayed extra-renal findings in combination with CAKUT were diagnosed with a pathogenic variant. Conclusions WES provides an increase in diagnosing pathogenic variants in cases of prenatally detected CAKUT. Especially in fetuses with extra-renal malformations, WES facilitates a gain in information on the fetal genotype to enhance prenatal counselling and management.

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“…Patients have kidney abnormalities, hypotonia, cardiomyopathies as well as liver abnormalities, weakness, fatigue and myalgia [ 31 ]. The prevalence is 1:250,000 [ 32 ].…”

Section: Resultsmentioning

confidence: 99%

Spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) including renal parenchymal malformations during fetal life and the implementation of prenatal exome sequencing (WES)

Maier

Fangmann

Reinhardt

et al. 2023

Arch Gynecol Obstet

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“…A carbohydrate-rich, low-protein, and low-fat diet, supplemented with carnitine and riboflavin, is essential. Riboflavin is particularly important for stabilizing the misfolded ETFDH protein [22]. The regular monitoring of blood sugar, ketone bodies, organic acids, and liver and heart functions, along with assessing nutritional status and providing timely interventions during illness, are key to preventing metabolic crises [18,23].…”

Section: Discussionmentioning

confidence: 99%

Navigating the Diagnostic Journey in Pediatric Gastroenterology: Decoding Recurrent Vomiting and Epigastric Pain in a Child with Glutaric Aciduria Type II

Kek,

Tsai,

Chiu

et al. 2024

Children

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Background: Glutaric aciduria type II (GA II), also known as multiple acyl-CoA dehydrogenase deficiency (MADD), is a rare autosomal recessive metabolic disorder with varied manifestations and onset ages. Case Report: This study presents a distinctive case of a 10-year-old girl who experienced episodic, intermittent vomiting and epigastric pain, particularly aggravated by high-fat and sweet foods. Despite inconclusive physical examinations and routine laboratory tests, and an initial suspicion of cyclic vomiting syndrome, the persistence of recurrent symptoms and metabolic abnormalities (metabolic acidosis and hypoglycemia) during her third hospital admission necessitated further investigation. Advanced diagnostic tests, including urinary organic acid analysis and genetic testing, identified heterozygous pathogenic variants in the ETFDH gene, confirming a diagnosis of GA IIc. The patient showed a positive response to a custom low-protein, low-fat diet supplemented with carnitine and riboflavin. Significance: This case emphasizes the diagnostic challenges associated with recurrent, nonspecific gastrointestinal symptoms in pediatric patients, particularly in differentiating between common gastrointestinal disorders and rare metabolic disorders like GA II. It highlights the importance of considering a broad differential diagnosis to enhance understanding and guide future medical approaches in similar cases.

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Clinical Reasoning: A 22-Year-Old Woman With Episodic Weakness and Jaundice

Rathinasabapathi,

Tiwari,

Kumar

et al. 2024

Neurology

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We report a case of a 22-year-old woman who presented with recurrent episodes of quadriparesis, often accompanied by jaundice. Neurologic examination showed symmetrical proximal predominant quadriparesis with generalized hyporeflexia. The differential diagnoses included were of metabolic, inflammatory, genetic (including channelopathies), and autoimmune causes. Serum creatine phosphokinase levels and electrophysiologic studies helped narrow the differential. The final diagnosis was one that was responsive to vitamin supplementation. This report provides a systematic clinical approach to a case of episodic weakness with jaundice and respiratory failure. Section 1A 22-year-old woman without any previous known comorbidities was admitted with insidious onset and gradually progressive quadriparesis, with predominant truncal weakness and bulbar involvement in the form of dysphagia and shortness of breath for 3.5 months. There was no history of fluctuations, diurnal variation, exercise intolerance, cramps, abdominal pain, seizures, psychiatric features, or dark-colored urine. There was no sensory involvement or bladder or bowel involvement. There was no twitching of the muscles. The family history was unremarkable except for a history of migraine in her siblings. During the hospital stay, the patient's weakness progressed further. She developed type 2 respiratory failure with a pCO2 of 67.1 mm Hg and pH of 7.245 and was placed on mechanical ventilation.

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Glutaric Aciduria Type 2 Presenting in Adult Life With Hypoglycemia and Encephalopathic Hyperammonemia

Cited by 3 publications

References 13 publications

Spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) including renal parenchymal malformations during fetal life and the implementation of prenatal exome sequencing (WES)

Spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) including renal parenchymal malformations during fetal life and the implementation of prenatal exome sequencing (WES)

Navigating the Diagnostic Journey in Pediatric Gastroenterology: Decoding Recurrent Vomiting and Epigastric Pain in a Child with Glutaric Aciduria Type II

Clinical Reasoning: A 22-Year-Old Woman With Episodic Weakness and Jaundice

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