Molecular Genetics and Metabolism Reports最新文献

{"title":"Psychosocial adaptation of children and adolescents with phenylketonuria in Korea","authors":"Jeongho Lee,&nbsp;Eun Sook Suh","doi":"10.1016/j.ymgmr.2025.101272","DOIUrl":"10.1016/j.ymgmr.2025.101272","url":null,"abstract":"<div><div>Phenylketonuria (PKU) is one of the most common inherited metabolic disorders. If recognized and treated early, patients can avoid severe complications and maintain normal intellectual functioning. However, despite early and intensive treatment, several studies have reported an increased prevalence of psychiatric and behavioral symptoms, particularly in adulthood. The aim of this study was to investigate psychiatric manifestations in children and adolescents with PKU. The Korean version of the Child Behavior Checklist (K-CBCL) was used to assess psychopathology in 50 children with PKU and 50 healthy controls. Recent and mean phenylalanine (Phe) levels, as well as demographic information, were collected through retrospective chart review. Patients with PKU showed significantly higher scores in social, school, aggressive behavior, externalizing problems, and total behavior on the K-CBCL than healthy controls. Significant differences were found in total competence (<em>p</em> &lt; 0.001), total behavior (<em>p</em> = 0.004), attention (<em>p</em> = 0.031), and emotional lability (p = 0.031) between clinical and non-clinical ranges. Later age at diagnosis was associated with increased anxiety, depression, thought problems, attention deficits, and emotional lability. Internalizing problems (<em>p</em> = 0.025), thought problems (<em>p</em> = 0.016), and delinquent behavior (<em>p</em> = 0.006) were positively correlated with recent and mean Phe levels. Internalizing problems (<em>p</em> = 0.004), attention (<em>p</em> = 0.008), and social problems (<em>p</em> = 0.016) were associated with variation in blood Phe levels. Children with PKU may experience greater psychosocial challenges than healthy children. Careful monitoring and control of Phe levels may reduce the risk of psychiatric symptoms in this population.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"45 ","pages":"Article 101272"},"PeriodicalIF":1.9,"publicationDate":"2025-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145325207","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Renoprotective effects of SGLT2 inhibitors in patients with Fabry disease","authors":"Hayaki Okamoto,&nbsp;Shunsuke Goto,&nbsp;Mika Fujita,&nbsp;Hideki Fujii","doi":"10.1016/j.ymgmr.2025.101271","DOIUrl":"10.1016/j.ymgmr.2025.101271","url":null,"abstract":"<div><h3>Background</h3><div>Fabry disease (FD) is a rare X-linked lysosomal storage disorder characterized by globotriaosylceramide (Gb3) accumulation, resulting in kidney and cardiac dysfunction. Although enzyme replacement therapy (ERT) and chaperone therapy are the standard therapies, progression of renal decline persists. Sodium–glucose co-transporter 2 (SGLT2) inhibitors exert renoprotective effects in chronic kidney disease (CKD), but their efficacy in FD remains unknown.</div></div><div><h3>Methods</h3><div>We retrospectively analyzed data of 10 patients with FD treated with SGLT2 inhibitors and compared their renal outcomes to 18 patients with CKD without FD. The estimated glomerular filtration rate (eGFR) slope, urinary albumin-to-creatinine ratio (UACR), and plasma brain natriuretic peptide (BNP) levels were assessed 1 year before and after initiating SGLT2 inhibitor therapy. Linear mixed-effects models were employed for statistical analysis.</div></div><div><h3>Results</h3><div>In patients with FD, the annual eGFR decline significantly improved from −4.38 mL/min/1.73 m²/year (IQR: −10.57 to 0.59) before treatment to 1.25 (IQR: −4.16 to 9.74) after treatment (<em>p</em> &lt; 0.05). This improvement remained significant after adjusting for confounding factors. In contrast, the annual eGFR decline in patients with CKD without FD also tended to improve, albeit without significance. Notably, the initial eGFR decline usually seen with SGLT2 inhibitors in CKD was not observed in the FD cohort. UACR and plasma BNP levels remained unchanged after SGLT2 inhibitor therapy.</div></div><div><h3>Conclusions</h3><div>SGLT2 inhibitors substantially attenuated the decline in eGFR in patients with FD. These findings support their potential as a renoprotective adjunct in the management of FD.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"45 ","pages":"Article 101271"},"PeriodicalIF":1.9,"publicationDate":"2025-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145325206","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Severe nonketotic hyperglycinaemia due to a synonymous variant","authors":"Ping Pang ,&nbsp;Lin Wan ,&nbsp;Yan Liang ,&nbsp;Xia Zhao ,&nbsp;Guang Yang","doi":"10.1016/j.ymgmr.2025.101268","DOIUrl":"10.1016/j.ymgmr.2025.101268","url":null,"abstract":"<div><div>Nonketotic hyperglycinaemia (NKH) is an autosomal recessive neurometabolic disorder resulting from deficient glycine cleavage system activity, causing severe neurological impairment. While NKH is typically associated with pathogenic variants in glycine decarboxylase (<em>GLDC</em>) or aminomethyltransferase, the role of synonymous variants remains uncertain. To date, no cases of NKH caused by <em>GLDC</em> homozygous synonymous variants have been reported. Herein, a female infant born to consanguineous parents who developed refractory seizures, progressing to infantile epileptic spasms syndrome at 2 months is reported. Initial genetic testing identified a homozygous synonymous <em>GLDC</em> variant (c.1023G &gt; A, p.Val341=), previously classified as “likely benign” in ClinVar (variation identification number: 1108119). Minigene splicing analysis revealed that the c.1023G &gt; A variant caused a 38-base pair deletion in exon 7 (r.1021_1058del), Given the phenotypic characteristics of the child, we predict that this may resulting in a frameshift mutation (p.Val341ArgfsTer56) and a truncated protein. This functional evidence confirmed the pathogenicity of the variant.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"45 ","pages":"Article 101268"},"PeriodicalIF":1.9,"publicationDate":"2025-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145325209","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"SCYL1 deficiency and intrafamilial variability: Two cases from Kuwait","authors":"Laila Kazem ,&nbsp;Wafaa Al-Qabandi ,&nbsp;Buthaina Albash ,&nbsp;Reem Elshafie ,&nbsp;Miao He ,&nbsp;Hind Alsharhan","doi":"10.1016/j.ymgmr.2025.101269","DOIUrl":"10.1016/j.ymgmr.2025.101269","url":null,"abstract":"<div><h3>Introduction</h3><div>Biallelic pathogenic variants in <em>SCYL1</em> have been reported in 22 individuals to date. Also referred to as CALFAN syndrome (cholestasis, acute liver failure, and neurodegeneration), this condition is characterized by recurrent episodic acute liver failure (ALF) with low-GGT cholestasis and variable neurological manifestations. <em>SCYL1</em> deficiency disrupts intracellular vesicular trafficking, leading to hepatopathy and, in some cases, abnormal glycosylation.</div></div><div><h3>Results</h3><div>We report two Kuwaiti siblings homozygous for a pathogenic splice site variant in <em>SCYL1</em>(NM_020680.4):c.1386 + 1G &gt; A p.?. The younger sibling, an 8-year-old female presented at 16 months with ALF, hepatosplenomegaly, global developmental delay, hypotonia, and gait instability. During liver crises, she demonstrated biochemical features including low-GGT cholestasis, coagulopathy, and transient glycosylation abnormalities. Liver biopsy revealed peri-sinusoidal fibrosis and mild steatosis. She experienced two additional ALF episodes at 26 months and 3 years, both resolving completely. Follow-up biochemical testing at age 5.5 years showed normalization of glycosylation patterns following hepatic recovery. In contrast, her 9-year-old brother, who carries the same homozygous variant, remains asymptomatic, with normal development, liver function and imaging.</div></div><div><h3>Conclusion</h3><div>To our knowledge, this is the first description of an asymptomatic individual homozygous for a pathogenic <em>SCYL1</em> variant. Our findings highlight striking intrafamilial variability in <em>SCYL1</em>-deficiency and emphasize the reversibility of glycosylation abnormalities and liver dysfunction upon clinical recovery.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"45 ","pages":"Article 101269"},"PeriodicalIF":1.9,"publicationDate":"2025-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145325208","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lactic acidosis, rhabdomyolysis, and hyperammonemia: Atypical presentation in a new patient with PDE-ALDH7A1 defect","authors":"Marina Bottino ,&nbsp;Monica Boyer ,&nbsp;Maija R. Steenari ,&nbsp;Rebekah Barrick ,&nbsp;Jose E. Abdenur","doi":"10.1016/j.ymgmr.2025.101260","DOIUrl":"10.1016/j.ymgmr.2025.101260","url":null,"abstract":"&lt;div&gt;&lt;div&gt;Pyridoxine-Dependent Epilepsy (PDE) is an autosomal recessive disorder caused by biallelic variants in ALDH7A1. The most common presentation is intractable seizures in the neonatal/early infantile period, which respond to pyridoxine. Other manifestations include perinatal asphyxia, hypoglycemia, and neuroimaging abnormalities. Despite early treatment, patients often have neurodevelopmental abnormalities. Treatment guidelines recommend triple therapy with pyridoxine, dietary lysine restriction, and arginine supplementation.&lt;/div&gt;&lt;div&gt;We report an individual presenting with laboratory abnormalities suggestive of mitochondrial disease. Born full-term, via NSVD, with normal Apgar scores and cord gases. At 30 min, grunting developed, and at 4 h of life, jerky movements with eye deviation were noted. Laboratory results revealed acidosis (pH 7.15) and increased lactate (11.4 mMol/L, rr &lt;2.1). The patient was started on IV fluids, given 1 mEq/kg of sodium bicarbonate, and transferred for higher-level care. Upon arrival, the evaluation was notable for hypotonia, non-rhythmic jerking movements, rapid eye blinking, and a critically low pH (6.92), high lactate (15.3 mMol/L), hyperammonemia (153 μMol/L, rr &lt; 75), and a creatine kinase level of 15,742 U/L (rr 35–230). A single dose of phenobarbital was given, and the baby was intubated and ventilated. Video electroencephalogram (vEEG) showed a discontinuous background with abnormal, sharply contoured bursts alternating with suppression, with no clinical correlation. The patient was treated with continuous sodium bicarbonate drip and IV fluids, restricting glucose. Abnormal movements, lactic acidosis, and hyperammonemia resolved within 24 h. An electroencephalogram (EEG) at 5 days of life (DOL) showed a mildly discontinuous background with no epileptic activity, and MRI showed a thin corpus callosum, cysts, and cerebellar hypoplasia. Creatine kinase peaked at 30,995 U/L and normalized on DOL 8. Organic acids revealed significant increases in lactate, 2-OH-butyrate, pyruvate, 3-OH-butyrate, 2-OH-isovalerate, and a mild increase in Krebs-cycle intermediates.&lt;/div&gt;&lt;div&gt;Rapid whole genome sequence (rWGS) was available on DOL 9, disclosing two variants in &lt;em&gt;ALDH7A1&lt;/em&gt;: c.1559C &gt; T p.Ser520Phe, previously reported, and c.1540 A &gt; G p.Lys514Glu, considered a VUS. Treatment with pyridoxine started at 30 mg/kg/day. Pre-treatment biomarkers were consistent with the diagnosis of PDE-ALDH7A1: urine Pipecolate 117.8 mMol/mol, RR ≤10, 6-oxo-Pipecolate 8.4 mMol/mol, RR ≤2.0 and plasma alpha-aminoadipic semialdehyde (AASA) 5.2 uMol/L, RR &lt;0.4. Treatment with arginine was added on DOL 10 (200 mg/kg/day) and a lysine-restricted diet on DOL 12, after TPN was discontinued. Clinical exam improved, no seizures were observed, and EEG normalized. PDE biomarkers decreased, and the patient was discharged home on DOL 25.&lt;/div&gt;&lt;div&gt;Elevated lactic acid has been reported in up to 70.3 % of PDE-ALDH7A1 patients ","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"45 ","pages":"Article 101260"},"PeriodicalIF":1.9,"publicationDate":"2025-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145266533","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Natural history, clinical symptoms, and cognitive development of Japanese patients with mucopolysaccharidosis III","authors":"Joo-Hyun Seo ,&nbsp;Wakana Sou ,&nbsp;Yasutsugu Chinen ,&nbsp;Torayuki Okuyama","doi":"10.1016/j.ymgmr.2025.101267","DOIUrl":"10.1016/j.ymgmr.2025.101267","url":null,"abstract":"<div><h3>Abstract</h3><div>Mucopolysaccharidosis type III (MPS III) is an autosomal recessive lysosomal storage disorder characterized by severe progressive neurocognitive deterioration. Currently, no definitive treatment for MPS III is available, although novel therapies are being developed. This retrospective study characterized the natural history, clinical symptoms, treatment strategies, and cognitive development of MPS III in Japan, which will provide the basis for evaluating the efficacy of new therapies. Twelve patients (three with MPS IIIA, nine with MPS IIIB) registered in the Japan Registration System for Metabolic &amp; Inherited Diseases or their parents completed survey questions on patient background, diagnostic information, treatment history, and developmental age (DA). Mean age at diagnosis was 4 years and 7 months (standard deviation: 1 year and 6 months), with no notable difference between MPS IIIA and IIIB. All 12 patients had substantial developmental delay and progressive decline, as demonstrated by plotting DA against chronological age, as well as bone deformity, dysmorphic facial features (hirsutism), impaired motor and language development (language delay, hyperactivity, gait disorder), and sleep disturbance. Developmental delay had begun by approximately 3 years old when DA was usually first assessed, with regression occurring thereafter; regression was more gradual in MPS IIIB than in MPS IIIA. Most patients received daily care (e.g., tubal feeding) and medications to control symptoms (e.g., anticonvulsants). This was the first study to evaluate changes in DA, clinical symptoms, and treatment of patients with MPS III in Japan. These results can be used as natural history data in the future evaluation of new treatments.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"45 ","pages":"Article 101267"},"PeriodicalIF":1.9,"publicationDate":"2025-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145266532","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Think classical homocystinuria if the genetic test did not confirm Marfan syndrome: Late diagnosis and phenotypic variability in adult siblings with classical homocystinuria","authors":"Randa Sultan ,&nbsp;Jordan Urlacher ,&nbsp;Taryn Athey ,&nbsp;Peter Kannu ,&nbsp;Peter Seres ,&nbsp;Saadet Mercimek-Andrews","doi":"10.1016/j.ymgmr.2025.101261","DOIUrl":"10.1016/j.ymgmr.2025.101261","url":null,"abstract":"<div><div>Classical homocystinuria is an inherited metabolic disease of homocysteine metabolism due to biallelic pathogenic variants in <em>CBS</em>. The biochemical hallmark is elevated homocysteine and methionine levels. The treatment consists of betaine supplementation and protein restricted diet. We report two adult siblings with late diagnosis of classical homocystinuria, a variable phenotype and good response to the treatment.</div><div>Patient 1 is a 29-year-old female with a history of myopia, Marfanoid habitus with significant kyphoscoliosis, anxiety and a psychotic episode. Clinical exome sequencing identified compound heterozygous pathogenic variants in <em>CBS</em> (c.209+1G&gt;A; c.992C&gt;T (p.Ala331Val)). She had markedly elevated homocysteine (298 μmol/L) and methionine (1040 μmol/L) levels. Her brain magnetic resonance spectroscopy revealed a low <em>n</em>-acetyl-aspartic acid peak. She was started on betaine supplementation, and a protein-restricted diet (0.8 g/kg/day) leading to significant decrease in her homocysteine (37 μmol/L) and methionine (49 μmol/L) levels. Patient 2 is a 27-year-old female (younger sibling) with a history of anxiety, one generalized tonic-clonic seizure and a dural sinus thrombosis in neuroimaging. She had both familial <em>CBS</em> variants and markedly elevated homocysteine (152 μmol/L) and methionine (560 μmol/L) levels, which were improved significantly on betaine supplementation and the protein-restricted diet. Both siblings had average range intellectual abilities. Higher homocysteine levels may result in severe skeletal, and central nervous system phenotypes.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"45 ","pages":"Article 101261"},"PeriodicalIF":1.9,"publicationDate":"2025-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145266535","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Siblings of FBXL4-related mitochondrial DNA depletion syndrome, leading to fatal fulminant pneumonia","authors":"Takato Akiba ,&nbsp;Shino Shimada ,&nbsp;Shimpei Matsuda ,&nbsp;Shoji Ishida ,&nbsp;Yosuke Baba ,&nbsp;Atsushi Yamashita ,&nbsp;Hiromichi Shoji ,&nbsp;Yasushi Okazaki ,&nbsp;Kei Murayama","doi":"10.1016/j.ymgmr.2025.101266","DOIUrl":"10.1016/j.ymgmr.2025.101266","url":null,"abstract":"<div><div>The F-box and leucine-rich repeat protein 4 (<em>FBXL4</em>) is a nuclear encoded mitochondrial protein essential for mitochondrial DNA (mtDNA) maintenance. Biallelic variants in <em>FBXL4</em> cause FBXL4-related mitochondrial DNA depletion syndrome (FBXL4-MTDPS), characterized by lactic acidosis and developmental delay. We report two siblings diagnosed with FBXL4-MTDPS who died of fulminant pneumonia in infancy; autopsy revealed extensive pulmonary inflammation consistent with severe bacterial infection. FBXL4-MTDPS may involve intrinsic defects in pulmonary infection defense, increasing susceptibility to fatal infection such as pneumonia.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"45 ","pages":"Article 101266"},"PeriodicalIF":1.9,"publicationDate":"2025-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145266534","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long-term neuromuscular, cardiac and liver outcomes in an adult man affected with Chanarin-Dorfman syndrome","authors":"Kinza Noman ,&nbsp;Andreas Tridimas ,&nbsp;James B. Lilleker ,&nbsp;Gaetano Nucifora ,&nbsp;Peter Woolfson ,&nbsp;Daniel du Plessis ,&nbsp;Alison Woodall ,&nbsp;Andrew Oldham ,&nbsp;Mark E. Roberts ,&nbsp;John Bassett ,&nbsp;Federico Roncaroli ,&nbsp;Simon A. Jones ,&nbsp;Stefan Coassin ,&nbsp;Florian Kronenberg ,&nbsp;Karolina M. Stepien","doi":"10.1016/j.ymgmr.2025.101265","DOIUrl":"10.1016/j.ymgmr.2025.101265","url":null,"abstract":"<div><div>Chanarin-Dorfman syndrome (CDS) is an ultra-rare autosomal recessive subtype of neutral lipid storage disorder (NLSD); it is characterised by ichthyosis and intracytoplasmic accumulation of lipid droplets containing triglycerides, most commonly in granulocytes, muscle fibres, skin and liver. Several pathogenic variants in the <em>ABHD5</em>/CGI-58 gene have been described. Clinical manifestations include steatohepatitis, myopathy, ophthalmic disease, developmental delay. Liver involvement is an important cause of morbidity and mortality.</div><div>We present a case of a 26-year-old male diagnosed with ichthyotic NLSD in childhood, who developed progressive myopathy and cardiac fibrosis in adulthood. He was treated with a combination of low-fat diet, MCT oil and co-enzyme Q10 which resulted in an initial improvement in muscle strength and stabilisation of muscle symptoms and well-being.</div><div>Synopsis: Medical and dietetic management of liver and muscle complications in Chanarin-Dorfman syndrome.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"45 ","pages":"Article 101265"},"PeriodicalIF":1.9,"publicationDate":"2025-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145266536","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Carbonic anhydrase VA deficiency due to a novel CA5A variant","authors":"Laura Keehan ,&nbsp;Elizabeth Null ,&nbsp;Lekha Chilakamarri ,&nbsp;Christopher Carter ,&nbsp;Chung Lee ,&nbsp;Gregory M. Enns ,&nbsp;Dena R. Matalon","doi":"10.1016/j.ymgmr.2025.101259","DOIUrl":"10.1016/j.ymgmr.2025.101259","url":null,"abstract":"<div><div>Carbonic anhydrase VA (CA-VA) deficiency is a rare autosomal recessive inborn error of metabolism characterized by variable neonatal onset metabolic acidosis, hyperammonemia, lactic acidosis, and ketonuria. To date, there have been 41 cases of CA-VA deficiency described in the literature. Here, we report the clinical history and biochemical laboratory findings of a newborn female with a novel homozygous missense variant in <em>CA5A</em>. This case adds to the literature of biochemical findings and ancestral diversity in individuals with CA-VA deficiency.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"45 ","pages":"Article 101259"},"PeriodicalIF":1.9,"publicationDate":"2025-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145219998","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}