Marble brain disease in two Saudi Arabian siblings

Muzalef, Abdullah; Alshehri, Mohammed; Al-Abidi, Abdulaziz; Al-Trabolsi, Hassan A.

doi:10.1179/146532805x58175

Cited by 11 publications

(3 citation statements)

References 18 publications

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“…Osteopetrosis, RTA, cerebral calcification, developmental delay, skeletal fractures ( 13 ), facial dysmorphism ( 14 , 15 ), are common features in CA II deficiency. In our case is also present nephrocalcinosis and renal stones, conductive hearing loss, primary pulmonary hypertension, conditions less frequently described at the same time ( 15 – 18 ).…”

Section: Discussionmentioning

confidence: 99%

Carbonic Anhydrase II Deficiency: A Rare Case of Severe Obstructive Sleep Apnea

et al. 2018

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The term osteopetrosis describes a group of rare hereditary diseases of the skeleton, characterized by an increase in bone density, caused by a defect in the development or function of osteoclasts. It comprises a clinically and genetically heterogeneous conditions ranging from infantile onset life-threatening forms to mildest adult onset forms. “Malignant” osteopetrosis is characterized by bone fragility, short stature, compressive neuropathies, hypocalcaemia, pancytopaenia. The deficiency of carbonic anhydrase II causes a moderate form, presenting classically as a triad of osteopetrosis, renal tubular acidosis (RTA), and cerebral calcification. This condition leads to specific craniofacial dysmorphisms associated with upper airway obstruction that may result in obstructive sleep apnea. Herein we report a case of osteopetrosis with RTA associated with severe OSAS successfully treated with continuous positive airway pressure (CPAP).

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Section: Discussionmentioning

confidence: 99%

Carbonic Anhydrase II Deficiency: A Rare Case of Severe Obstructive Sleep Apnea

et al. 2018

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“…In many cases these are loss-of-function diseases where compromised protein stability renders misfolding of an important enzyme. In the gene encoding HCA II several autosomal recessive mutations have been found associated with carbonic anhydrase II deficiency syndrome also known as marble brain disease and Guibaud−Vainsel syndrome ( , ). A number of these mutations result in early translation termination, and others are missense point mutations ( − ).…”

Section: Discussionmentioning

confidence: 99%

Thermodynamic Interrogation of a Folding Disease. Mutant Mapping of Position 107 in Human Carbonic Anhydrase II Linked to Marble Brain Disease

et al. 2008

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(i) H107N is least destabilizing likely due to compensatory H-bonding ability of the introduced Asn residue. (ii) Double mutant cycles surprisingly reveal additive destabilization of H107N and E117A showing that H107 and E117 are independently stabilizing the folded protein. (iii) H107Y and H107F are exceptionally destabilizing due to bulkiness of the side chains whereas H107A is more accommodating, indicating long-range destabilizing effects of the natural pathogenic H107Y mutation.

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“…Extrarenal manifestations include osteopetrosis, intracerebral calcification and developmental delay (645). Mild hearing loss due to a conductive defect has also been reported (517). …”

Section: Regulation Of Collecting Duct Acidificationmentioning

confidence: 99%

Molecular Mechanisms and Regulation of Urinary Acidification

Kurtz

2014

Comprehensive Physiology

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The H+ concentration in human blood is kept within very narrow limits, ~ 40 nM, despite the fact that dietary metabolism generates acid and base loads that are added to the systemic circulation throughout the life of mammals. One of the primary functions of the kidney is to maintain the constancy of systemic acid-base chemistry. The kidney has evolved the capacity to regulate blood acidity by performing three key functions: 1) reabsorb HCO3− that is filtered through the glomeruli to prevent its excretion in the urine; 2) generate a sufficient quantity of new HCO3− to compensate for the loss of HCO3− resulting from dietary metabolic H+ loads and loss of HCO3− in the urea cycle; and 3) excrete HCO3− (or metabolizable organic anions) following a systemic base load. The ability of the kidney to perform these functions requires that various cell types throughout the nephron respond to changes in acid-base chemistry by modulating specific ion transport and/or metabolic processes in a coordinated fashion such that the urine and renal vein chemistry is altered appropriately. The purpose of the article is to provide the interested reader with a broad review of a field that began historically ~ 60 years ago with whole animal studies, and has evolved to where we are currently addressing questions related to kidney acid-base regulation at the single protein structure/function level.

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Marble brain disease in two Saudi Arabian siblings

Cited by 11 publications

References 18 publications

Carbonic Anhydrase II Deficiency: A Rare Case of Severe Obstructive Sleep Apnea

Carbonic Anhydrase II Deficiency: A Rare Case of Severe Obstructive Sleep Apnea

Thermodynamic Interrogation of a Folding Disease. Mutant Mapping of Position 107 in Human Carbonic Anhydrase II Linked to Marble Brain Disease

Molecular Mechanisms and Regulation of Urinary Acidification

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