绝经后妇女骨代谢过程中血清基质金属蛋白酶3和骨桥蛋白的变化

背景：骨桥蛋白和基质金属蛋白酶3具有高度的亲和力,此二者的表达可能与骨代谢有关。 目的：观察绝经后妇女血清基质金属蛋白酶3和骨桥蛋白水平,并观察其与骨保护蛋白、骨保护蛋白配体及骨代谢指标的关系。 方法：将120名绝经后妇女分为骨密度正常组、低骨量组和骨质疏松组3 组,对其血清基质金属蛋白酶3、骨桥蛋白、骨保护蛋白、骨保护蛋白配体及骨碱性磷酸酶、骨钙素、Ⅰ型胶原交联C端肽和尿Ⅰ型胶原交联N端肽进行测定,计算骨桥蛋白/基质金属蛋白酶3比值。 结果与结论：骨质疏松组中血清骨桥蛋白和基质金属蛋白酶3的水平高于正常组(P < 0.05)。绝经后妇女血清基质金属蛋白酶3、骨桥蛋白和骨桥蛋白/基质金属蛋白酶3比值与血清骨保护蛋白配体、骨碱性磷酸酶和骨钙素水平呈明显负相关 (P < 0.05),与骨保护蛋白、尿尿Ⅰ型胶原交联N端肽/肌酐比值呈明显正相关性(P < 0.05)。骨质疏松组中血清基质金属蛋白酶3、骨桥蛋白和骨桥蛋白/基质金属蛋白酶3比值与血清骨保护蛋白配体、骨碱性磷酸酶和骨钙素水平呈明显负相关 (P < 0.05),与骨保护蛋白、尿尿Ⅰ型胶原交联N端肽/肌酐水平比值存在明显正相关性(P < 0.05)。提示绝经后妇女血清骨桥蛋白水平和骨桥蛋白/基质金属蛋白酶3比值升高与绝经后骨质疏松症伴随骨代谢转换过程增快有关。     

脑性瘫痪儿童的骨代谢生化特点★

目的：骨源性碱性磷酸酶与骨钙素在骨的形成过程中发挥着重要的调节作用,降钙素、甲状旁腺激素是调节体内Ca代谢的重要激素。测定脑性瘫痪患儿血钙、磷、骨源性碱性磷酸酶、骨钙素、降钙素、甲状旁腺激素水平，以了解其骨代谢生化特点及其相关的调控因素。 方法：①对象及分组：选择2005-07/2007-07湖南省儿童医院康复中心住院的脑瘫患儿120例为脑瘫组：男82例，女38 例；年龄3个月~3岁。按2005年昆明全国脑瘫会议分型标准分为痉挛型 60例，不随意运动型60 例；按脑瘫程度分为中轻度36 例，中度42 例，重度42 例。同期体检的健康的100名儿童为对照组：男57名，女43名，年龄3个月~3岁。②检测指标及评估：采用全自动分析仪测定两组血清钙、磷水平；用小儿骨源性碱性磷酸酶试剂盒金标法测定骨碱性磷酸酶；用放射免疫吸附法测定骨钙素、降钙素、甲状旁腺激素，并进行两组间、不同程度与类型脑瘫患儿间比较。 结果：①脑瘫组患儿血钙、磷与对照组比较差异无显著性（P > 0.05），骨碱性磷酸酶、骨钙素水平则明显高于对照组（P < 0.01），甲状旁腺激素、降钙素与对照组差异无统计学意义（均P > 0.05）。②脑瘫组中痉挛型组血骨钙素与不随意运动型组比较，差异无显著性（P > 0.05）,但前者血甲状旁腺激素值高于后者, 骨碱性磷酸酶值、降钙素值则低于后者,差异有显著性(均P < 0.05)。③重度脑瘫患儿的甲状旁腺激素高于对照组、降钙素低于对照组（均P < 0.01）；重度脑瘫患儿骨钙素、甲状旁腺激素值高于轻度和中度(均P < 0.05)，降钙素低于轻度和中度(均P < 0.05)。 结论：脑瘫患儿血清钙、磷可以通过机体自身血甲状旁腺激素、降钙素调控保持正常，而骨碱性磷酸酶、骨钙素水平升高则提示脑瘫患儿骨矿化不足，骨形成旺盛，骨重建活跃。     

在糖尿病肾病过程中血清骨保护素及骨密度的变化

背景：目前人们对糖尿病肾病过程中所致肾性骨病骨保护素的关系仍不清楚。 目的：探索2型糖尿病肾病过程中患者骨密度、血清骨保护素水平的变化及其间的相关性。 方法：选择2型糖尿病患者104例,根据肾小球滤过率将患者分为5组：单纯糖尿病组、肾脏轻,中,重度损伤组、肾衰竭组。选择健康体检者20名为对照组。采用双抗体夹心酶联免疫吸附法(ELISA)测定受试者血清骨保护素水平。采用全自动生化分析仪检测血清钙、磷、碱性磷酸酶、肌酐、尿素氮及糖化血红蛋白。采用双能X射线骨密度仪测定正位L2~4的骨密度。观察受试者骨密度、骨保护素水平及其与各指标的多元回归相关分析。 结果与结论：糖尿病肾病患者血清骨保护素水平明显高于健康对照人群(P < 0.05),肾脏轻,中,重度损伤组、肾衰竭组患者骨密度明显低于健康对照人群(P < 0.05,P < 0.01,P < 0.001)。总体来说,肾功能越差,骨保护素水平越高,骨密度越低。糖尿病肾病患者骨保护素水平与骨密度呈负相关(r=-0.497,P < 0.01),与糖尿病病程(r=0.566,P < 0.01)、血清肌酐水平(r=0.772,P < 0.01)、尿素氮水平(r=0.708,P < 0.01)、磷水平(r=0.329,P < 0.01)、全段甲状旁腺激素水平(r=0.702,P < 0.01)呈正相关,与血清钙水平呈负相关(r=-0.505,P < 0.01)。提示糖尿病肾病过程中随肾脏功能的恶化,骨保护素水平升高,骨密度降低,骨保护素水平与骨密度呈负相关,与糖尿病病程、血清肌酐水平、尿素氮水平、磷水平、全段甲状旁腺激素水平呈正相关,与血清钙水平呈负相关。     

非典型抗精神病药对精神分裂症患者骨代谢的影响

目的:探讨非典型抗精神病药对精神分裂症患者骨代谢标志物的影响。方法:对连续服用非典型抗精神病药6个月的门诊或住院精神分裂症患者40例(研究组)及40名体检健康人(对照组)血液中性激素3项(泌乳素、雌二醇和睾酮)、甲状腺功能5项(总甲状腺激素、总三碘甲状腺激素、促甲状腺激素、游离甲状腺激素和游离三碘甲状腺激素)及骨代谢标志物5项(骨钙素、甲状旁腺激素、Ⅰ型胶原羧基端前肽、25-羟维生素D和β-型胶原分解产物)水平进行检测和比较。结果:研究组血骨钙素、Ⅰ型胶原羧基端前肽和β-型胶原分解产物水平显著升高,而维生素D和甲状旁腺激素水平显著下降(P均0.05)。重复测量方差分析显示,组间主效应显著,除β-型胶原分解产物性别主效应不显著外其他指标性别主效应显著,交互效应均不显著。骨代谢标志物水平与性激素水平及甲状腺功能指标不相关。结论:非典型抗精神病药物对精神分裂症患者的骨代谢标志物可产生一定的影响。     

糖尿病性骨质疏松患者血清自由基代谢与糖骨康的影响*

目的：糖尿病患者常伴有体内过氧化脂质水平的明显升高,而自由基增多可加重糖尿病并发症的发生和发展。糖骨康为治疗糖尿病骨质疏松症的临床验方，观察糖骨康对糖尿病骨质疏松患者骨密度、空腹血糖、糖化血红蛋白和血清超氧化物歧化酶、丙二醛含量的影响。 方法：①对象及分组：选择2003-03/2006-03在邯郸市第一医院老年病科和涉县中医院骨科收治的糖尿病骨质疏松患者139例。随机分为治疗组74例（年龄60~82岁），对照组65例（年龄60~85岁）。另设健康体检人员为正常组40名。上述人员对所用的治疗及检测指标均知情同意。③用药：治疗组服用中药糖骨康汤剂（由熟地黄、山萸肉、山药、锁阳、龟板、丹参、川芎组成，采用自动煎药机水煎包装）；对照组服用盖天力片(江苏启东盖天力制药厂生产)，两组同时口服西药常规降糖药，30 d为1疗程。④评估：治疗前后检测两组患者空腹血糖、糖化血红蛋白变化；比较正常组与两组患者治疗前骨密度、超氧化物歧化酶活性、丙二醛含量的差异。 结果：①两组患者空腹血糖以及糖化血红蛋白的比较：与治疗前比较，两组治疗后空腹血糖以及糖化血红蛋白均明显下降（P < 0.05或P < 0.01），但两组治疗后比较差异无统计学意义（P > 0.05）。②两组患者骨密度的比较：与治疗前比较，两组治疗后骨密度均明显上升（P < 0.05或P < 0.01），治疗组在升高骨密度方面优于对照组（P < 0.05）。③两组患者超氧化物歧化酶活性、丙二醛含量的比较：治疗后两组血清超氧化物歧化酶活性显著上升（P < 0.05或P < 0.01），丙二醛含量显著下降（P < 0.05或P < 0.01），治疗组在升高超氧化物歧化酶活性和降低丙二醛含量方面优于对照组（P < 0.05）。④正常组与治疗组、对照组患者骨密度、超氧化物歧化酶活性、丙二醛含量的比较：与正常组比较，治疗组、对照组患者骨密度和血清超氧化物歧化酶活性显著降低，丙二醛含量显著升高（P < 0.01）。 结论：糖骨康具有调节糖尿病骨质疏松患者自由基代谢，降低血糖，抑制骨质疏松的作用。     

男性2型糖尿病患者骨代谢生化指标与骨密度变化的探讨

男性2型糖尿病患者骨代谢生化指标与骨密度变化的探讨 陈陵霞 苗懿德 刘杰 魏雅楠 郏蓉 宝辉 褚琳 北京大学人民医院老年科,北京100044 北京大学人民医院科研基金支持项目 陈陵霞,女,1972年生,重庆市人,汉族,1995年北京大学医学部本科毕业,2001年北京大学医学部博士毕业,2005-2007美国宾夕法尼亚大学博士后,副主任医师,副教授,研究方向为骨质疏松症及2型糖尿病并发症研究。 chenlingxia@medmail.com.cn 摘要 背景：2型糖尿病是骨质疏松症发生的高危人群,但其发生发展机制尚不明确。 目的 了解男性2型糖尿病患者骨代谢特点及骨密度变化,为2型糖尿病骨质疏松症的预防和治疗提供临床依据。 方法 观察住院及门诊男性2型糖尿病患者97例,非糖尿病男性76例,空腹采血测定血骨保护素（OPG）、抗酒石酸酸性磷酸酶（TRAP）、骨钙素（BGP）、骨碱磷酶（BAP）、I型胶原C-末端（CTX）。同时收集相关临床资料及生化指标。骨密度使用Hologic双能X线骨密度仪测定。 结果与结论 男性糖尿病患者各部位骨密度较非糖尿病组无显著变化。男性糖尿病患者OPG及CTX较非糖尿病者显著升高,分别为（1173.7±791.0）ng/L vs （868.6±483.0）ng/L(p<0.05)及（10.09±4.65）nmol/L vs （8.65±3.86）nmol/L(p<0.05)。BGP、BAP、TRAP无显著变化。提示OPG及CTX在男性2型糖尿病患者骨质疏松症的发生中有一定影响。 关键词：糖尿病;骨代谢;骨密度     

重组骨保护蛋白对糖皮质激素性骨质疏松的保护作用

背景：糖皮质激素性骨质疏松的发生机制与骨保护蛋白表达下调相关，在治疗雌激素缺乏性骨质疏松的动物实验和临床应用中，骨保护蛋白均表现出良好的抗骨吸收效能。 目的：验证外源性重组骨保护蛋白对糖皮质激素所致骨质疏松的影响。 设计、时间及地点：随机分组设计、对照动物实验，于2006-01/2008-06在解放军总医院骨科研究所完成。 材料：选择清洁级健康成年雄性wistar大鼠60只；地塞米松磷酸钠注射液为天津金耀氨基酸有限公司产品，批准文号：国药准字H12020515。 方法：大鼠随机分为3组，每组20只。对照组，生理盐水给药对照组；地塞米松组，单纯糖皮质激素给药组；骨保护蛋白组，糖皮质激素联合重组骨保护蛋白给药组。 主要观察指标：12周各组大鼠分别取材，进行尿钙、磷、肌酐、骨密度、骨生物力学测定；大鼠骨骼局部免疫组织化学染色观察骨保护素表达。 结果：纳入动物60只，均进入结果分析。①地塞米松组与对照组比较，尿钙上升(P < 0.05)；腰椎、股骨骨密度均明显下降(P < 0.05)，其中腰椎骨密度下降尤为显著(P < 0.01)；腰椎和股骨生物力学检测最大载荷、最大应力、弹性载荷、弹性应力、弹性模量显著下降(P < 0.05)；免疫组织化学显示骨髓内源性骨保护蛋白表达显著下降(P < 0.01)。②骨保护蛋白组与地塞米松组比较，尿钙下降(P < 0.01)；骨密度增加 (P < 0.05)；腰椎和股骨生物力学检测指标均增强(P < 0.05)；骨髓内源性骨保护蛋白表达无明显变化。 结论：糖皮质激素抑制骨骼局部骨保护蛋白表达，继发了渐进性骨质丢失，促进了骨质疏松的形成。重组骨保护蛋白可以部分抑制糖皮质激素引起的骨吸收，降低骨吸收指标、提高骨密度、增加骨强度，从而改善糖皮质激素性骨质疏松状况。     

妥泰对成人癫痫患者骨代谢及骨密度的影响

目的：探讨妥泰对成人癫痫患者骨代谢及骨密度的影响。方法选取70例服用妥泰半年以上的痫病患者作为研究组,同时选取50例未服用过任何抗癫痈药物的癫痈患者作为对照组。观察2组患者血清钙、磷、碱性磷酸酶以及甲状旁腺激素水平,此外观察2组患者腰2～4椎骨与左股骨颈、股骨大转子、Wards三角区骨密度。结果2组患者血清钙、磷、碱性磷酸酶以及甲状旁腺激素等水平,差异均无统计学意义（P＞0·05）;2组患者腰2、腰4、腰2～4椎骨与股骨大转子、Wards三角区骨密度,差异均有统计学意义（P＜0·05）。结论妥泰对成人癫痫患者骨代谢无明显影响,对骨密度有轻微影响。     

降钙素受体基因多态性与原发性骨质疏松的相关性★

目的：骨质疏松是多基因调控疾病，峰值骨量达到和骨量丢失均受遗传因素影响。观察山东半岛地区汉族人群降钙素受体Alu-Ⅰ基因多态性各基因型频率及其与骨质疏松的关系，探讨原发性骨质疏松症的遗传易感因素。 方法：试验于2005-06/2007-06在青岛大学医学院附属医院中心实验室完成。①试验对象：选取332名长期居住在山东半岛地区无亲缘关系的汉族人群，纳入标准：健康门诊查体人员、原发性骨质疏松症及原发性骨质疏松症所致骨折患者；患者对试验知情同意。排除标准：各种继发性骨质疏松症；影响骨代谢相关疾病史；服用影响骨代谢药物等。其中骨质疏松合并骨折75例作为骨质疏松性骨折组，余257例经过骨密度测定确定骨量，按骨质疏松诊断标准（骨密度测定值比同性别峰值骨密度均值降低2.5个标准差）分为骨量正常组（n =201）及骨质疏松组（n =56）。②试验方法：应用聚合酶链反应限制性片段长度多态性分析技术测定257名山东半岛汉族成年人和75名骨质疏松性骨折患者降钙素受体基因型，用双能X射线吸收法测定腰椎、股骨颈、粗隆间、Ward’s三角和大转子区等部位的骨密度值。 结果：纳入受试者332人，均进入结果分析。①本试验人群降钙素受体基因型频率分布均符合Hardy-Weinberg 定律(χ2=0.47，P =0.493)。基因型频率分布依次为CC型占89.5%，CT型占10.5%，TT型占0%。②年龄与不同部位骨密度值之间呈负相关（P < 0.01），体质量指数与骨密度值之间呈正相关（P < 0.01），在将年龄和体质量指数进行校正后发现女性CC基因型较CT基因型在ward’s三角区有较高的骨密度（P < 0.05)，骨量正常组各基因型与骨质疏松性骨折组之间差异无显著性意义（P > 0.05)。 结论：山东半岛汉族女性降钙素受体基因型与骨密度之间存在一定关联，降钙素受体C1377T基因多态性可能成为胶东半岛汉族女性发生骨质疏松危险性的遗传标志。     

Ⅱ型胶原C端肽与椎间盘退变及骨性关节炎的相关性

背景：软骨退变标志物是近年来的研究热点,Ⅱ型胶原C端肽是可以通过无创方法检测软骨退变的较好指标。 目的：观察Ⅱ型胶原C端肽与椎间盘退变及骨性关节炎的相关性。 设计、时间及地点：回顾性分析,于2008-03/06在郑州大学第一附属医院骨科完成。 对象：选择椎间盘退变和骨性关节炎患者各15例分别作为椎间盘退变组和骨性关节炎组,其中椎间盘退变组男7例,女8例,平均年龄(62±7)岁;骨性关节炎组男6例,女9例,平均年龄(61±8)岁;另选未患骨性关节炎及椎间盘退变的非骨科疾病患者15例作为对照组,男8例,女7例,平均年龄(57±6)岁。 方法：3组患者分别取第2次晨尿10 mL,尿样置-20 ℃冰箱保存。尿样收齐后,用人骨退化特异标志物酶联免疫分析试剂盒检测每例标本的Ⅱ型胶原C端肽值,同时检测每例标本的尿肌酐浓度,并对Ⅱ型胶原C端肽值进行校正。 主要观察指标：尿Ⅱ型胶原C端肽在椎间盘退变及骨性关节炎患者中的水平及相关性。 结果：45例患者均进入结果分析。与对照组相比,椎间盘退变组和骨性关节炎组患者尿中Ⅱ型胶原C端肽明显升高,差异有显著性意义(P < 0.05)。椎间盘退变组和骨性关节炎组Ⅱ型胶原C端肽水平相比,差异无显著性意义(P > 0.05)。椎间盘退变组椎间盘退变分级与Ⅱ型胶原C端肽水平呈正相关(r=0.592,P=0.020)。骨性关节炎组膝关节退变分级与Ⅱ型胶原C端肽水平也呈正相关(r=0.719,P=0.003)。 结论：椎间盘退变患者及骨性关节炎患者尿中Ⅱ型胶原C端肽水平均有升高,且Ⅱ型胶原C端肽与椎间盘退变及骨性关节炎具有正相关性。     

Assessment of lumbar trabecular bone density by means of single energy quantitative CT in hospital control children and bone metabolic disorders. 1

We studied the 3rd lumbar vertebral trabecular bone mineral density in 59 cross-sectional pictures of quantitative computed tomography (QCT) with CaCO3 phantom for 28 hospital control children and 30 cases of suspected bone metabolic disorders. The QCT value of bone mineral density of control children showed neither age dependency nor sexual difference before puberty: for males was 221.8 +/- 30.2 mg CaCO3/cm3 (Mean +/- SD) under 4 years, 218.1 +/- 39.7 at 5-9 years and 217.2 +/- 30.9 at 10-15 years; and for females 220.9 +/- 18.3 under 4 years and 240.0 +/- 29.4 at 5-9 years. The QCT values of bone mineral density in bed-ridden patients, children receiving glucocorticoids and children receiving anticonvulsants were significantly lower than that in control children (p less than 0.005). The QCT value of bone mineral density of bed-ridden patients was significantly lower than that of children receiving glucocorticoids and of children receiving anticonvulsants (p less than 0.05, p less than 0.005 respectively). Our study confirmed that single energy quantitative CT was very useful in pediatric clinical application.     

Effects of vitamin K2 administration in the patients with severely motor and intellectual disabilities: assessment of bone metabolic marker and bone mineral density

We studied the effects of vitamin K2 (menatetrenone) on the bone metabolic markers and bone mineral density (BMD) in 17 with low level of BMD cases of severely motor and intellectual disabilities (SMID). Markers of bone formation and resorption as well as BMD were determined before, and 16, 32, and 48 weeks after administration of vitamin K2. After 48 weeks of treatment, serum bone alkaline phosphatase and oseteocalcin levels of significantly increased (p < 0.05, p < 0.01, respectively), but urinary excretion of neither pyridinoline nor deoxypyridinoline decreased. BMD determined by the computed X-ray densitometer method tended to increase in cases with severe motor dysfunction (p = 0.07). There were no side effects. These data demonstrate that vitamin K2 may improve bone formation in patients with SMID.     

Skeletal muscle metabolic dysfunction in obesity and metabolic syndrome

Obesity and the related metabolic syndrome have become a worldwide epidemic. Inactivity appears to be a primary causative factor in the pathogenesis of this obesity and metabolic syndrome. There are two possible, perhaps not mutually exclusive, events that may lead to intramyocellular lipid accumulation and mitochondrial dysfunction in patients with obesity. First, obesity, with high intake-associated lipid accumulation in muscle may interfere with cellular mitochondrial function through generation of reactive oxygen species leading to lipid membrane peroxidative injury and disruption of mitochondrial membrane-dependent enzymes. This in turn leads to impaired oxidative metabolism. Secondly, a primary defect in mitochondrial oxidative metabolism may be responsible for a reduction in fatty acid oxidation leading to intramyocellular lipid accumulation as a secondary event. Non-invasive techniques such as proton (1H) and phosphorus (31P) magnetic resonance spectroscopy, coupled with specific magnetic resonance imaging techniques, may facilitate the investigation of the effects of various ergometric interventions on the pathophysiology of obesity and the metabolic syndrome. Exercise has positive effects on glucose metabolism, aerobic metabolism, mitochondrial density, and respiratory chain proteins in patients with metabolic syndrome, and we propose that this may be due to the exercise effects on AMP kinase, and a prospective physiological mechanism for this benefit is presented. A physiological model of the effect of intramyocellular lipid accumulation on oxidative metabolism and insulin mediated glucose uptake is proposed.     

Seizures and metabolic disease

Seizures represent an important clinical manifestation of inborn errors of metabolism. The presence of myoclonic seizures and very early onset are clues to a metabolic disorder. Specific correlations between age of seizure onset and electroencephalogram patterns with inborn errors of metabolism are discussed. The explosion of information in neurogenetics and metabolism mandates increasing awareness of appropriate metabolic diagnostic and therapeutic strategies in the setting of certain epilepsies. Specific laboratory, imaging, and treatment considerations are included to present updated material in a field that continues to expand rapidly.     

Treatable inherited metabolic epilepsies

Inherited metabolic diseases usually present a complex clinical picture in which seizures are one of various neurological manifestations, which include developmental delays/regression, acute encephalopathy, neuropsychiatric manifestations, and movement disorders. However, a seizure can be the prominent feature in inherited metabolic disease. The specific diagnosis of an underlying inherited metabolic disorder in epileptic patients may help design specific treatments that can improve the seizures and stop neurodegeneration. In several inherited metabolic diseases such as vitamin-responsive epilepsies and other metabolic epilepsies, seizures are refractory to antiseizure medications but respond to specific treatments based on vitamin and cofactor supplementation or diet. This review discusses our current understanding of these inherited metabolic disorders associated with epilepsy, where early diagnosis and treatment initiation will significantly improve the outcome.

Inherited metabolic diseases are common in highly consanguineous populations.¹ They present with a wide range of neurological symptoms, including developmental delays/regression, seizures, acute encephalopathy, hypotonia, neuropsychiatric features, and movement disorders.^2-4 Epilepsy is common in inherited metabolic diseases. It can present across one’s lifespan and constitutes an immense challenge because it is usually refractory to the commonly used antiepileptic medications and impairs the quality of life of such patients.^5-7 Some of these inherited metabolic diseases, such as vitamin-responsive epilepsies and other metabolic epilepsies, are amenable to specific treatments based on vitamin and cofactor supplementation or diet. Their clinical phenotypes, electroencephalographic (EEG) features, and magnetic resonance imaging (MRI) findings are mostly non-specific, but certain important clues can be obtained. Early diagnosis of an underlying treatable inherited metabolic disease as a cause of epilepsy is crucial since many will require specific management beyond common anti-seizure drugs, either to control seizures or to decrease the risk of brain injury.⁸ In this review, we discuss inherited metabolic disorders associated with epilepsy, where early diagnosis and treatment will significantly improve the outcome.Pathophysiology of epilepsy in inherited metabolic diseasesThe mechanisms of seizure generation in inherited metabolic disorders are diverse.⁹ They include accumulation of toxic metabolites (e.g., sulfocysteine), cofactor deficiency (e.g., vitamin B6), energy deficiency (e.g., glucose transporter 1(GLUT1)), substrate deficiency (e.g., serine biosynthesis deficiency), brain dysgenesis (e.g., pyruvate dehydrogenase deficiency), impaired neuronal function (e.g., storage disorder), disturbance of neurotransmitter systems (e.g., γ-aminobutyric acid [GABA] transaminase deficiency), or impaired metallation and transport (e.g., Menkes disease).⁹ Thus, a large proportion of inherited metabolic disorders can present with seizures, either during acute decompensation of the primary metabolic disorder or as a part of the complex phenotype of the inherited metabolic disorder.Common treatable inherited metabolic epilepsies. The common treatable inherited metabolic epilepsies are outlined in

Autism and metabolic diseases

Autism is an etiologic heterogeneous entity caused by many different diseases occurring in the central nervous system at an early stage in life. Several metabolic defects have been associated with autistic symptoms with a rate higher than that found in the general population. Inborn errors of metabolism can probably account for less than 5% of individuals. Selective metabolic testing should be done in the presence of suggestive clinical findings, including lethargy, cyclic vomiting, early seizures, dysmorphic features, and mental retardation. In some patients, early diagnosis of the metabolic disorders and proper therapeutic interventions may significantly improve the long-term cognitive and behavioral outcome.