Metabolic disorders

Progression of eye disease over 15 years in a patient with mucopolysaccharidosis type VI on enzyme replacement therapy
Mohammad Waseem Sarfraz, Martin Smith, Simon Jones, Jane Ashworth

BMJ Case Reports CP Feb 2021, 14 (2) e238544; DOI: 10.1136/bcr-2020-238544
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome in pregnancy
Deepa Balachandran Nair, Mariana Bloomfield, Rajeswari Parasuraman, David T Howe

BMJ Case Reports CP Apr 2021, 14 (4) e235111; DOI: 10.1136/bcr-2020-235111
Successful living kidney donation from a patient with a Gitelman’s syndrome
Milad Darrat, Hannah Likinyo, Shin-Howe Ryan Winata, Sarah Morgan, Aisling E Courtney, John Lindsay

BMJ Case Reports CP Feb 2022, 15 (2) e246162; DOI: 10.1136/bcr-2021-246162
Valproate-induced fatal acute hyperammonaemia-related encephalopathy in late-onset ornithine transcarbamylase deficiency
Daniel Kazmierski, Nishant Sharma, Kelly O'Leary, Pius Ochieng

BMJ Case Reports CP May 2021, 14 (5) e241429; DOI: 10.1136/bcr-2020-241429
Bilateral macular drusen in acquired partial lipodystrophy with type 2 membranoproliferative glomerulonephritis
Alexander Tanner, Hwei Wuen Chan, Anna Stears, Mariya Moosajee

BMJ Case Reports CP Jun 2021, 14 (6) e241666; DOI: 10.1136/bcr-2021-241666
Hepatectomy for liver metastasis from rectal cancer in a patient with mitochondrial disease
Shogo Takei, Yuki Homma, Ryusei Matsuyama, Itaru Endo

BMJ Case Reports CP Feb 2021, 14 (2) e238653; DOI: 10.1136/bcr-2020-238653
Late-onset multiple acyl-CoA dehydrogenase deficiency: an insidious presentation
Naini Nishita Rao, Kharis Burns, Catherine Manolikos, Samantha Hodge

BMJ Case Reports CP May 2023, 16 (5) e252668; DOI: 10.1136/bcr-2022-252668
Macro-B₁₂ masking B₁₂ deficiency
Bruce H R Wolffenbuttel, Anneke C Muller Kobold, Agata Sobczyńska‐Malefora, Dominic J Harrington

BMJ Case Reports CP Jan 2022, 15 (1) e247660; DOI: 10.1136/bcr-2021-247660
Coexistence of medium chain acyl-CoA dehydrogenase deficiency (MCADD) and type 1 diabetes (T1D): a management challenge
Donald Afreh-Mensah, Juliana Chizo Agwu

BMJ Case Reports CP Mar 2021, 14 (3) e239325; DOI: 10.1136/bcr-2020-239325
Refractory familial hypokalaemic periodic paralysis leading to cardiovascular compromise
Dominic O Awuah, Murtaza S Hussain, Anoosha Ponnapalli, Smit Sunil Deliwala, Elfateh M Seedahmed, Ghassan Bachuwa

BMJ Case Reports CP Feb 2022, 15 (2) e246674; DOI: 10.1136/bcr-2021-246674

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Metabolic disorders

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